A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2049627



Internal ID17836911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20238235..20239226hg38UCSC Ensembl
Innerchr16:20249557..20250548hg19UCSC Ensembl
Innerchr16:20157058..20158049hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38992
hg19992
hg18992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978104
Supporting Variants
SamplesHGDP00998
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)nssv2049627
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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