A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599211



Internal ID16386620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104365978..104446262hg38UCSC Ensembl
Innerchr5:103701679..103781963hg19UCSC Ensembl
Innerchr5:103729578..103809862hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3880285
hg1980285
hg1880285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9980n54
Supporting Variantsnssv1039650, nssv1039651, nssv1039649, nssv1039647, nssv1039652, nssv1039648, nssv1039653
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599211
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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