A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1935882



Internal ID17813312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66036524..66041334hg38UCSC Ensembl
Innerchr12:66430304..66435114hg19UCSC Ensembl
Innerchr12:64716571..64721381hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384811
hg194811
hg184811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975508
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv1935882
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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