A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053136



Internal ID18795667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77155482..77180761hg38UCSC Ensembl
Innerchr9:79770398..79795677hg19UCSC Ensembl
Innerchr9:78960218..78985497hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3825280
hg1925280
hg1825280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7682n100
Supporting Variantsnssv3696396, nssv3696395
Samples
Known GenesVPS13A, VPS13A-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053136
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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