A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966996



Internal ID18602225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23917500..23919766hg38UCSC Ensembl
Innerchr3:23958991..23961257hg19UCSC Ensembl
Innerchr3:23933995..23936261hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg382267
hg192267
hg182267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2274494, nssv2274497, nssv2274490, nssv2274495, nssv2274499, nssv2274493, nssv2274492, nssv2274498, nssv2274491, nssv2274496
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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