A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2041121



Internal ID17732008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3322758..3323937hg38UCSC Ensembl
Innerchr16:3372758..3373937hg19UCSC Ensembl
Innerchr16:3312759..3313938hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381180
hg191180
hg181180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974748
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2041121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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