A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2369662



Internal ID17836636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99521566..99536611hg38UCSC Ensembl
Innerchr5:98857270..98872315hg19UCSC Ensembl
Innerchr5:98885169..98900214hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3815046
hg1915046
hg1815046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964912
Supporting Variants
SamplesHGDP00998
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)nssv2369662
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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