A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2292575



Internal ID17730170
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 StatusS
Merged Variantsnsv965203
Supporting Variants
SamplesHGDP00456
Known GenesRABL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2292575
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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