A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612402



Internal ID16399811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136839412hg38UCSC Ensembl
Innerchr8:137687955..137851655hg19UCSC Ensembl
Innerchr8:137757137..137920837hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38163701
hg19163701
hg18163701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1156181, nssv1156180, nssv1156182, nssv1122282, nssv1156185, nssv1122295, nssv1156183, nssv1122287, nssv1122284, nssv1122277, nssv1122281, nssv1122288, nssv1122294, nssv1156179, nssv1122279, nssv1122292, nssv1122289, nssv1122291, nssv1122280, nssv1122293, nssv1122286, nssv1122285, nssv1122290, nssv1156178, nssv1156184, nssv1122283, nssv1122278
Samples1782681096_A, 1780854095_A, NINDS_14, 1780854334_A, 1780862227_A, 1780862101_A, 1782681317_A, NINDS_136
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612402
Frequency
Sample Size17421
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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