A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981921



Internal ID18617117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27010398..27013522hg38UCSC Ensembl
Innerchr8:26867915..26871039hg19UCSC Ensembl
Innerchr8:26923832..26926956hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383125
hg193125
hg183125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2726403, nssv2497371, nssv2726401, nssv2497366, nssv2497365, nssv2726405, nssv2726407, nssv2726404, nssv2726402, nssv2497367, nssv2726400, nssv2497373, nssv2726398, nssv2726399, nssv2726406, nssv2497370, nssv2497372, nssv2497368, nssv2497374, nssv2497369
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981921
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer