A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2061128



Internal ID17819820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47072653..47073707hg38UCSC Ensembl
Innerchr16:47106564..47107618hg19UCSC Ensembl
Innerchr16:45664065..45665119hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381055
hg191055
hg181055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978149
Supporting Variants
SamplesHGDP00927
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)nssv2061128
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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