A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575336



Internal ID16016059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46358514..46487204hg38UCSC Ensembl
Innerchr17:44435880..44564570hg19UCSC Ensembl
Innerchr17:41791622..41919886hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38128691
hg19128691
hg18128265
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5646n54
Supporting Variantsnssv872706, nssv872707, nssv872708, nssv872709
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)nsv575336
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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