A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575337



Internal ID16016060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46358514..46488684hg38UCSC Ensembl
Innerchr17:44435880..44566050hg19UCSC Ensembl
Innerchr17:41791622..41921366hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38130171
hg19130171
hg18129745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5641n54
Supporting Variantsnssv872711, nssv872710
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575337
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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