A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3566101



Internal ID18517696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53651171..53962842hg38UCSC Ensembl
Innerchr17:51728532..52040203hg19UCSC Ensembl
Innerchr17:49083531..49395202hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38311672
hg19311672
hg18311672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058435
Supporting Variants
Samples
Known GenesKIF2B, MIR548AJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3566101
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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