A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612864



Internal ID16400273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143618479..143630578hg38UCSC Ensembl
Innerchr8:144700649..144712748hg19UCSC Ensembl
Innerchr8:144771792..144783891hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3812100
hg1912100
hg1812100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12427n54
Supporting Variantsnssv1125585, nssv1125581, nssv1125583, nssv1125582, nssv1125586, nssv1125584
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612864
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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