A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2287575



Internal ID17859448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:87319851..87324402hg38UCSC Ensembl
Innerchr3:87369001..87373552hg19UCSC Ensembl
Innerchr3:87451691..87456242hg18UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg384552
hg194552
hg184552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967034
Supporting Variants
SamplesHGDP01284
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)nssv2287575
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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