A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1929391



Internal ID17464480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52315790..52317118hg38UCSC Ensembl
Innerchr12:52709574..52710902hg19UCSC Ensembl
Innerchr12:50995841..50997169hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381329
hg191329
hg181329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976617
Supporting Variants
SamplesHGDP00927
Known GenesKRT83
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)nssv1929391
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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