A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1939250



Internal ID17484161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80101256..80103928hg38UCSC Ensembl
Innerchr12:80495036..80497708hg19UCSC Ensembl
Innerchr12:79019167..79021839hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382673
hg192673
hg182673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973096
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv1939250
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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