A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967627



Internal ID18602855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114029499..114032626hg38UCSC Ensembl
Innerchr8:115041728..115044855hg19UCSC Ensembl
Innerchr8:115110904..115114031hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383128
hg193128
hg183128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2518054, nssv2518051, nssv2518057, nssv2518059, nssv2518055, nssv2518052, nssv2518058, nssv2518060, nssv2518056, nssv2518053
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)nsv967627
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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