A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061719



Internal ID18804250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44415722..44602319hg38UCSC Ensembl
Innerchr20:43044362..43230960hg19UCSC Ensembl
Innerchr20:42477776..42664374hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38186598
hg19186599
hg18186599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737213
Samples
Known GenesHNF4A, PKIG, SERINC3, TTPAL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061719
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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