A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967595



Internal ID18256137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56587736..56588975hg38UCSC Ensembl
Innerchr8:57500295..57501534hg19UCSC Ensembl
Innerchr8:57662849..57664088hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2504226, nssv2504224, nssv2504229, nssv2504221, nssv2504227, nssv2504220, nssv2504223, nssv2504222, nssv2504225, nssv2504228
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)nsv967595
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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