A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2488841



Internal ID17743208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67190..70989hg38UCSC Ensembl
Innerchr8:17190..20989hg19UCSC Ensembl
Innerchr8:7190..10989hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg383800
hg193800
hg183800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967547
Supporting Variants
SamplesHGDP00456
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2488841
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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