A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1920228



Internal ID17738762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19455640..19457669hg38UCSC Ensembl
Innerchr12:19608574..19610603hg19UCSC Ensembl
Innerchr12:19499841..19501870hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382030
hg192030
hg182030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975457
Supporting Variants
SamplesHGDP00456
Known GenesAEBP2
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)nssv1920228
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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