A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1927937



Internal ID17829977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50217134..50218434hg38UCSC Ensembl
Innerchr12:50610917..50612217hg19UCSC Ensembl
Innerchr12:48897184..48898484hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381301
hg191301
hg181301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975487
Supporting Variants
SamplesHGDP00998
Known GenesLIMA1
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)nssv1927937
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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