A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575484



Internal ID16362893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48672429..48703467hg38UCSC Ensembl
Innerchr17:46749791..46780829hg19UCSC Ensembl
Innerchr17:44104790..44135828hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3831039
hg1931039
hg1831039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv873117
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575484
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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