A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2274030



Internal ID17801099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:13224527..13228569hg38UCSC Ensembl
Innerchr3:13266027..13270069hg19UCSC Ensembl
Innerchr3:13241027..13245069hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384043
hg194043
hg184043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963298
Supporting Variants
SamplesHGDP00778
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)nssv2274030
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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