A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2062682



Internal ID17735008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53491433..53492025hg38UCSC Ensembl
Innerchr16:53525345..53525937hg19UCSC Ensembl
Innerchr16:52082846..52083438hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978151
Supporting Variants
SamplesHGDP00456
Known GenesAKTIP, RBL2
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)nssv2062682
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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