A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967602



Internal ID18602830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69983446..69991824hg38UCSC Ensembl
Innerchr8:70895681..70904059hg19UCSC Ensembl
Innerchr8:71058235..71066613hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg388379
hg198379
hg188379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2508392, nssv2508395, nssv2508394, nssv2508390, nssv2508386, nssv2508387, nssv2508388, nssv2508391, nssv2508389, nssv2508393
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)nsv967602
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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