A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599379



Internal ID16386788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112603917..112608598hg38UCSC Ensembl
Innerchr5:111939614..111944295hg19UCSC Ensembl
Innerchr5:111967513..111972194hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg384682
hg194682
hg184682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10006n54
Supporting Variantsnssv1040302, nssv1040298, nssv1040299, nssv1040291, nssv1040309, nssv1040313, nssv1040310, nssv1040296, nssv1040305, nssv1040306, nssv1040304, nssv1040295, nssv1040315, nssv1040300, nssv1040301, nssv1040312, nssv1040307, nssv1040311, nssv1040314, nssv1040293, nssv1040290, nssv1040303, nssv1040294, nssv1040292, nssv1040308, nssv1040297
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599379
Frequency
Sample Size17421
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer