A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062488



Internal ID18805019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46148387..46185584hg38UCSC Ensembl
Innerchr17:44225753..44262950hg19UCSC Ensembl
Innerchr17:41581530..41618727hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3837198
hg1937198
hg1837198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3225n100
Supporting Variantsnssv3557263, nssv3557262
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062488
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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