A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003681



Internal ID18746212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123216394..123282647hg38UCSC Ensembl
Innerchr3:122935241..123001494hg19UCSC Ensembl
Innerchr3:124417931..124484184hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3866254
hg1966254
hg1866254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604532
Samples
Known GenesADCY5, SEC22A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003681
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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