A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041647



Internal ID18784178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77211923..77537136hg38UCSC Ensembl
Innerchr9:79826839..80152052hg19UCSC Ensembl
Innerchr9:79016659..79341872hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38325214
hg19325214
hg18325214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3759774
Samples
Known GenesGNA14, VPS13A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041647
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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