A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2069344



Internal ID17539366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81082348..81087713hg38UCSC Ensembl
Innerchr16:81115953..81121318hg19UCSC Ensembl
Innerchr16:79673454..79678819hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg385366
hg195366
hg185366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978006
Supporting Variants
SamplesHGDP01307
Known GenesGCSH
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)nssv2069344
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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