A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575915



Internal ID16016638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67680693..67891780hg38UCSC Ensembl
Innerchr17:65676809..65887896hg19UCSC Ensembl
Innerchr17:63107271..63318358hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38211088
hg19211088
hg18211088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875895
Samples
Known GenesBPTF, NOL11, PITPNC1, SNORA38B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575915
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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