A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016446



Internal ID19105665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149862584..150046003hg38UCSC Ensembl
Innerchr7:149559673..149743092hg19UCSC Ensembl
Innerchr7:149190606..149374025hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38183420
hg19183420
hg18183420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6752n100
Supporting Variantsnssv3674243
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)nsv1016446
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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