A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2292296



Internal ID17470176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123973224..123977903hg38UCSC Ensembl
Innerchr3:123692071..123696750hg19UCSC Ensembl
Innerchr3:125174761..125179440hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg384680
hg194680
hg184680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979871
Supporting Variants
SamplesHGDP00927
Known GenesROPN1
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)nssv2292296
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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