A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2299268



Internal ID17882022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:145818913..145829164hg38UCSC Ensembl
Innerchr3:145536700..145546951hg19UCSC Ensembl
Innerchr3:147019390..147029641hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3810252
hg1910252
hg1810252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965220
Supporting Variants
SamplesHGDP01307
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)nssv2299268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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