A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967594



Internal ID18602822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56476034..56477830hg38UCSC Ensembl
Innerchr8:57388593..57390389hg19UCSC Ensembl
Innerchr8:57551147..57552943hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381797
hg191797
hg181797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2504124, nssv2504131, nssv2504128, nssv2504132, nssv2504127, nssv2504126, nssv2504130, nssv2504123, nssv2504129, nssv2504125
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)nsv967594
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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