A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1946373



Internal ID17523336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120200045..120201198hg38UCSC Ensembl
Innerchr12:120637848..120639001hg19UCSC Ensembl
Innerchr12:119122231..119123384hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381154
hg191154
hg181154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976653
Supporting Variants
SamplesHGDP01284
Known GenesRPLP0
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)nssv1946373
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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