A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600284



Internal ID16387693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172564910..172607097hg38UCSC Ensembl
Innerchr5:171991913..172034100hg19UCSC Ensembl
Innerchr5:171924518..171966705hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3842188
hg1942188
hg1842188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153121
SamplesHGDP01351
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600284
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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