A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2069665



Internal ID17469468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87911161..87915039hg38UCSC Ensembl
Innerchr16:87944767..87948645hg19UCSC Ensembl
Innerchr16:86502268..86506146hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg383879
hg193879
hg183879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974841
Supporting Variants
SamplesHGDP00927
Known GenesCA5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2069665
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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