A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981964



Internal ID18617160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:92139502..92146016hg38UCSC Ensembl
Innerchr8:93151730..93158244hg19UCSC Ensembl
Innerchr8:93220906..93227420hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386515
hg196515
hg186515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2512815, nssv2512822, nssv2512818, nssv2512817, nssv2512823, nssv2512816, nssv2512820, nssv2512814, nssv2512819, nssv2512821
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)nsv981964
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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