A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614736



Internal ID16055459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:78030724..78032496hg38UCSC Ensembl
Innerchr9:80645640..80647412hg19UCSC Ensembl
Innerchr9:79835460..79837232hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381773
hg191773
hg181773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12772n54
Supporting Variantsnssv1137707, nssv1137708, nssv1137709
Samples
Known GenesGNAQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614736
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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