A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029484



Internal ID18772015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149842825..149902237hg38UCSC Ensembl
Innerchr7:149539914..149599326hg19UCSC Ensembl
Innerchr7:149170847..149230259hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3859413
hg1959413
hg1859413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674239
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)nsv1029484
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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