A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575934



Internal ID16016657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69214851..69336214hg38UCSC Ensembl
Innerchr17:67210992..67332355hg19UCSC Ensembl
Innerchr17:64722587..64843950hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38121364
hg19121364
hg18121364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875914
Samples
Known GenesABCA10, ABCA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575934
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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