A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3604532



Internal ID18556127
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 StatusS
Merged Variantsnsv1003681
Supporting Variants
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)nssv3604532
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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