A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1920697



Internal ID17392812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27639671..27643697hg38UCSC Ensembl
Innerchr12:27792604..27796630hg19UCSC Ensembl
Innerchr12:27683871..27687897hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg384027
hg194027
hg184027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976591
Supporting Variants
SamplesHGDP00456
Known GenesPPFIBP1
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)nssv1920697
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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