A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2276216



Internal ID17735032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29088429..29089520hg38UCSC Ensembl
Innerchr3:29129920..29131011hg19UCSC Ensembl
Innerchr3:29104924..29106015hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965151
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2276216
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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