A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2039054



Internal ID17765165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1328043..1351866hg38UCSC Ensembl
Innerchr16:1378044..1401867hg19UCSC Ensembl
Innerchr16:1318045..1341868hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3823824
hg1923824
hg1823824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974746
Supporting Variants
SamplesHGDP00542
Known GenesBAIAP3, TSR3
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)nssv2039054
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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