A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029171



Internal ID19118390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149862584..150054122hg38UCSC Ensembl
Innerchr7:149559673..149751211hg19UCSC Ensembl
Innerchr7:149190606..149382144hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38191539
hg19191539
hg18191539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6752n100
Supporting Variantsnssv3674245
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)nsv1029171
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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