A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1930240



Internal ID17737962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52287412..52291543hg38UCSC Ensembl
Innerchr12:52681196..52685327hg19UCSC Ensembl
Innerchr12:50967463..50971594hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384132
hg194132
hg184132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976615
Supporting Variants
SamplesHGDP00456
Known GenesKRT81
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)nssv1930240
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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