A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1928479



Internal ID17451099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49184154..49186788hg38UCSC Ensembl
Innerchr12:49577937..49580571hg19UCSC Ensembl
Innerchr12:47864204..47866838hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382635
hg192635
hg182635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976610
Supporting Variants
SamplesHGDP00778
Known GenesTUBA1A
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)nssv1928479
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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