A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965210



Internal ID18600444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129380833..129394213hg38UCSC Ensembl
Innerchr3:129099676..129113056hg19UCSC Ensembl
Innerchr3:130582366..130595746hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3813381
hg1913381
hg1813381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2296355, nssv2296353, nssv2296356, nssv2296348, nssv2296354, nssv2296350, nssv2296349, nssv2296347, nssv2296351, nssv2296352
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL32P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965210
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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