A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967617



Internal ID18256159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91158009..91163506hg38UCSC Ensembl
Innerchr8:92170237..92175734hg19UCSC Ensembl
Innerchr8:92239413..92244910hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg385498
hg195498
hg185498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2513249, nssv2513256, nssv2513257, nssv2513251, nssv2513254, nssv2513253, nssv2513255, nssv2513252, nssv2513258, nssv2513250
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLRRC69
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967617
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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