A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599200



Internal ID16386609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103914013..103942296hg38UCSC Ensembl
Innerchr5:103249714..103277997hg19UCSC Ensembl
Innerchr5:103277613..103305896hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3828284
hg1928284
hg1828284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153978
SamplesHGDP00742
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599200
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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