A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056102



Internal ID18798633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44673341..45636248hg38UCSC Ensembl
Innerchr20:43301982..44264887hg19UCSC Ensembl
Innerchr20:42735396..43698301hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38962908
hg19962906
hg18962906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584832
Samples
Known GenesDBNDD2, EPPIN, EPPIN-WFDC6, KCNK15, KCNS1, MATN4, MIR6812, PABPC1L, PI3, PIGT, RBPJL, RIMS4, SDC4, SEMG1, SEMG2, SLPI, SPINT3, STK4, STK4-AS1, SYS1, SYS1-DBNDD2, TOMM34, TP53TG5, WFDC10A, WFDC12, WFDC2, WFDC5, WFDC6, WFDC8, WFDC9, WISP2, YWHAB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056102
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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