A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575159



Internal ID16015882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46330700hg38UCSC Ensembl
Innerchr17:44165803..44408066hg19UCSC Ensembl
Innerchr17:41521621..41763827hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38242264
hg19242264
hg18242207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872360, nssv872358, nssv872359
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575159
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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