A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872698



Internal ID15819968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46355489..46710944hg38UCSC Ensembl
Innerchr17:44432855..44788310hg19UCSC Ensembl
Innerchr17:41788595..42143493hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38355456
hg19355456
hg18354899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575332
Supporting Variants
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872698
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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