A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2071032



Internal ID17880788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88238766..88276618hg38UCSC Ensembl
Innerchr16:88272372..88310224hg19UCSC Ensembl
Innerchr16:86829873..86867725hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3837853
hg1937853
hg1837853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984365
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2071032
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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