A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2301720



Internal ID17887266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:155987045..155991166hg38UCSC Ensembl
Innerchr3:155704834..155708955hg19UCSC Ensembl
Innerchr3:157187528..157191649hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg384122
hg194122
hg184122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979892
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)nssv2301720
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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