A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2050240



Internal ID17888000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18855037..18926987hg38UCSC Ensembl
Innerchr16:18866359..18938309hg19UCSC Ensembl
Innerchr16:18773860..18845810hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3871951
hg1971951
hg1871951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984285
Supporting Variants
SamplesHGDP01307
Known GenesSMG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2050240
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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