A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1914552



Internal ID17828921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8740288..8742657hg38UCSC Ensembl
Innerchr12:8892884..8895253hg19UCSC Ensembl
Innerchr12:8784151..8786520hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382370
hg192370
hg182370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973018
Supporting Variants
SamplesHGDP00998
Known GenesRIMKLB
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)nssv1914552
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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