A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967603



Internal ID18256145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70273022..70274417hg38UCSC Ensembl
Innerchr8:71185257..71186652hg19UCSC Ensembl
Innerchr8:71347811..71349206hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381396
hg191396
hg181396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2507539, nssv2507540, nssv2507541, nssv2507536, nssv2507544, nssv2507538, nssv2507537, nssv2507535, nssv2507542, nssv2507543
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNCOA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967603
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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