A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3674240



Internal ID18625835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149855445..149984472hg38UCSC Ensembl
Innerchr7:149552534..149681561hg19UCSC Ensembl
Innerchr7:149183467..149312494hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38129028
hg19129028
hg18129028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022103
Supporting Variants
Samples
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3674240
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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