A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2069896



Internal ID17490153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87977624..87994835hg38UCSC Ensembl
Innerchr16:88011230..88028441hg19UCSC Ensembl
Innerchr16:86568731..86585942hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3817212
hg1917212
hg1817212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978008
Supporting Variants
SamplesHGDP00998
Known GenesBANP
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)nssv2069896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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