A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1947687



Internal ID17484265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130874341..130876201hg38UCSC Ensembl
Innerchr12:131358886..131360746hg19UCSC Ensembl
Innerchr12:129924839..129926699hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381861
hg191861
hg181861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983375
Supporting Variants
SamplesHGDP00998
Known GenesRAN
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)nssv1947687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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