A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967591



Internal ID18602819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54189861..54191922hg38UCSC Ensembl
Innerchr8:55102421..55104482hg19UCSC Ensembl
Innerchr8:55264974..55267035hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382062
hg192062
hg182062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503367, nssv2503373, nssv2503364, nssv2503372, nssv2503371, nssv2503365, nssv2503366, nssv2503370, nssv2503369, nssv2503368
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967591
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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