A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981970



Internal ID18617166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101369005..101369600hg38UCSC Ensembl
Innerchr8:102381233..102381828hg19UCSC Ensembl
Innerchr8:102450409..102451004hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2516278, nssv2516275, nssv2516281, nssv2516272, nssv2516273, nssv2516280, nssv2516277, nssv2516276, nssv2516279, nssv2516274
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNACAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981970
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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