A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575308



Internal ID16016031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348723..46526639hg38UCSC Ensembl
Innerchr17:44426089..44604005hg19UCSC Ensembl
Innerchr17:41781845..41959321hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38177917
hg19177917
hg18177477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5650n54
Supporting Variantsnssv872624
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575308
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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