A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2273091



Internal ID17782486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:11853391..11881613hg38UCSC Ensembl
Innerchr3:11894865..11923087hg19UCSC Ensembl
Innerchr3:11869865..11898087hg18UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3828223
hg1928223
hg1828223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963295
Supporting Variants
SamplesHGDP00665
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)nssv2273091
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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