A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2297521



Internal ID17886384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:141522332..141522966hg38UCSC Ensembl
Innerchr3:141241174..141241808hg19UCSC Ensembl
Innerchr3:142723864..142724498hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38635
hg19635
hg18635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979884
Supporting Variants
SamplesHGDP01307
Known GenesRASA2
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)nssv2297521
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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