A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575930



Internal ID16016653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69123884..69215890hg38UCSC Ensembl
Innerchr17:67120025..67212031hg19UCSC Ensembl
Innerchr17:64631620..64723626hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3892007
hg1992007
hg1892007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv875911
Samples
Known GenesABCA10, ABCA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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