A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575314



Internal ID16016037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46350516..46439385hg38UCSC Ensembl
Innerchr17:44427882..44516751hg19UCSC Ensembl
Innerchr17:41783638..41872192hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3888870
hg1988870
hg1888555
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872639, nssv872640
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)nsv575314
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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