A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599381



Internal ID16386790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112603917..112608776hg38UCSC Ensembl
Innerchr5:111939614..111944473hg19UCSC Ensembl
Innerchr5:111967513..111972372hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg384860
hg194860
hg184860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10006n54
Supporting Variantsnssv1040356, nssv1040354, nssv1040358, nssv1040355, nssv1040353, nssv1040360, nssv1040359, nssv1040357
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599381
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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