A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2314680



Internal ID17403536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187118443..187122168hg38UCSC Ensembl
Innerchr3:186836231..186839956hg19UCSC Ensembl
Innerchr3:188318925..188322650hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg383726
hg193726
hg183726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965243
Supporting Variants
SamplesHGDP00521
Known GenesRPL39L
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)nssv2314680
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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