A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2063406



Internal ID17381296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57428465..57429073hg38UCSC Ensembl
Innerchr16:57462377..57462985hg19UCSC Ensembl
Innerchr16:56019878..56020486hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978155
Supporting Variants
SamplesHGDP00456
Known GenesCIAPIN1
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)nssv2063406
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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