A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932666



Internal ID17399494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54076287..54127781hg38UCSC Ensembl
Innerchr12:54470071..54521565hg19UCSC Ensembl
Innerchr12:52756338..52807832hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3851495
hg1951495
hg1851495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv973072
Supporting Variants
SamplesHGDP00521
Known GenesFLJ12825, LOC100240734, LOC100240735, LOC400043
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1932666
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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