A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575804



Internal ID16016527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59262283..59284115hg38UCSC Ensembl
Innerchr17:57339644..57361476hg19UCSC Ensembl
Innerchr17:54694426..54716258hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3821833
hg1921833
hg1821833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875648
Samples
Known GenesGDPD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575804
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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