A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979915



Internal ID18268430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197951080..197955173hg38UCSC Ensembl
Innerchr3:197677951..197682044hg19UCSC Ensembl
Innerchr3:199162348..199166441hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384094
hg194094
hg184094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2308385, nssv2308382, nssv2308389, nssv2308381, nssv2308387, nssv2308384, nssv2308380, nssv2308386, nssv2308383, nssv2308388
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesIQCG, RPL35A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979915
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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