A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054479



Internal ID17888488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29108955..29126548hg38UCSC Ensembl
Innerchr16:29120276..29137869hg19UCSC Ensembl
Innerchr16:29027777..29045370hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3817594
hg1917594
hg1817594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984303
Supporting Variants
SamplesHGDP01307
Known GenesRRN3P2
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)nssv2054479
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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