A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979870



Internal ID18268385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122482969..122491232hg38UCSC Ensembl
Innerchr3:122201816..122210079hg19UCSC Ensembl
Innerchr3:123684506..123692769hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg388264
hg198264
hg188264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2295461, nssv2295462, nssv2295458, nssv2295464, nssv2295459, nssv2295466, nssv2295467, nssv2295463, nssv2295465, nssv2295460
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKPNA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979870
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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