Variant CNV_M2_HG19_7_72402420_72442357_7_72700438_72744454

Location: chr7:72402420-72442357 (39Kb), chr7:72700438-72744454 (44Kb), distance: 258Kb
Site classification: Multi-allelic
Variant DCN frequency: 0.005

Genes Overlapped
FKBP6 CDS peptidyl-prolyl cis-trans isomerase FKBP6
NSUN5 GENE putative methyltransferase NSUN5
POM121 CDS nuclear envelope pore membrane protein POM 121 isoform 1
STAG3L3 EXON NA
TRIM50 GENE E3 ubiquitin-protein ligase TRIM50
TRIM74 GENE tripartite motif-containing protein 74


1000 Genomes Phase 1


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Diploid copy number distribution
POP	CN0	CN1	CN2	CN3	CN4	CN5
ASW	0	0	0	0	43	2
CEU	0	0	0	0	66	0
CHB	0	0	0	0	78	0
CHS	0	0	0	0	90	1
CLM	0	0	0	0	49	0
FIN	0	0	0	0	60	2
GBR	0	0	0	0	54	0
IBS	0	0	0	0	6	0
JPT	0	0	0	2	67	0
LWK	0	0	0	0	69	0
MXL	0	0	0	0	53	1
PUR	0	0	0	1	51	0
TSI	0	0	0	0	83	0
YRI	0	0	0	0	70	1

AFR	0	0	0	0	139	1
AFR+	0	0	0	0	182	3
AMR	0	0	0	1	153	1
ASN	0	0	0	2	235	1
EUR	0	0	0	0	269	2

ALL	0	0	0	3	839	7
    
Diploid copy number distribution (95% confident)
POP	CN0	CN1	CN2	CN3	CN4	CN5
ASW	0	0	0	0	43	0
CEU	0	0	0	0	66	0
CHB	0	0	0	0	75	0
CHS	0	0	0	0	89	1
CLM	0	0	0	0	48	0
FIN	0	0	0	0	59	0
GBR	0	0	0	0	54	0
IBS	0	0	0	0	6	0
JPT	0	0	0	0	64	0
LWK	0	0	0	0	67	0
MXL	0	0	0	0	53	1
PUR	0	0	0	1	50	0
TSI	0	0	0	0	82	0
YRI	0	0	0	0	70	1

AFR	0	0	0	0	137	1
AFR+	0	0	0	0	180	1
AMR	0	0	0	1	151	1
ASN	0	0	0	0	228	1
EUR	0	0	0	0	267	0

ALL	0	0	0	1	826	3
    

Imputation spider plots:  ASW  CEU  CHB  CHS  CLM  FIN  GBR  IBS  JPT  LWK  MXL  PUR  TSI  YRI