A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1040287



Internal ID15893473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112603917..112608238hg38UCSC Ensembl
Innerchr5:111939614..111943935hg19UCSC Ensembl
Innerchr5:111967513..111971834hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg384322
hg194322
hg184322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599378
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1040287
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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