A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575330



Internal ID16016053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46355489..46511163hg38UCSC Ensembl
Innerchr17:44432855..44588529hg19UCSC Ensembl
Innerchr17:41788595..41943845hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38155675
hg19155675
hg18155251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5650n54
Supporting Variantsnssv872689, nssv872690, nssv872687, nssv872688
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)nsv575330
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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