A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979164



Internal ID18614367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201479871..201480473hg38UCSC Ensembl
Innerchr2:202344594..202345196hg19UCSC Ensembl
Innerchr2:202052839..202053441hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38603
hg19603
hg18603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217563, nssv2217558, nssv2217557, nssv2217562, nssv2217554, nssv2217560, nssv2217555, nssv2217559, nssv2217556, nssv2217561
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTRADB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979164
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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