A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1918861



Internal ID17827303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27091489..27095647hg38UCSC Ensembl
Innerchr12:27244422..27248580hg19UCSC Ensembl
Innerchr12:27135689..27139847hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg384159
hg194159
hg184159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973039
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)nssv1918861
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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