A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2281541



Internal ID17834389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51993060..51994208hg38UCSC Ensembl
Innerchr3:52027076..52028224hg19UCSC Ensembl
Innerchr3:52002116..52003264hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381149
hg191149
hg181149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963318
Supporting Variants
SamplesHGDP00998
Known GenesRPL29
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)nssv2281541
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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