A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981923



Internal ID18617119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28599090..28601201hg38UCSC Ensembl
Innerchr8:28456607..28458718hg19UCSC Ensembl
Innerchr8:28512526..28514637hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg382112
hg192112
hg182112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2497094, nssv2497093, nssv2497088, nssv2497090, nssv2497096, nssv2497095, nssv2497087, nssv2497091, nssv2497092, nssv2497089
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)nsv981923
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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