A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3562546



Internal ID18514141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37220433..37462210hg38UCSC Ensembl
Innerchr17:35577350..35822314hg19UCSC Ensembl
Innerchr17:32651463..32896427hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38241778
hg19244965
hg18244965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055680
Supporting Variants
Samples
Known GenesACACA, C17orf78, TADA2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3562546
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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