A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971656



Internal ID18606873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58419267..58426647hg38UCSC Ensembl
Innerchr8:59331826..59339206hg19UCSC Ensembl
Innerchr8:59494380..59501760hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387381
hg197381
hg187381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2505785, nssv2505794, nssv2505793, nssv2505791, nssv2505789, nssv2505786, nssv2505788, nssv2505792, nssv2505790, nssv2505787
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBXN2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971656
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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