A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965203



Internal ID18600437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120722240..120730835hg38UCSC Ensembl
Innerchr3:120441087..120449682hg19UCSC Ensembl
Innerchr3:121923777..121932372hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg388596
hg198596
hg188596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2292577, nssv2292571, nssv2292575, nssv2292573, nssv2292579, nssv2292574, nssv2292572, nssv2292576, nssv2292578, nssv2292570
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRABL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965203
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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