A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1962984



Internal ID17847104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52546816..52597536hg38UCSC Ensembl
Innerchr13:53120951..53171671hg19UCSC Ensembl
Innerchr13:52018952..52069672hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3850721
hg1950721
hg1850721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976118
Supporting Variants
SamplesHGDP01029
Known GenesTPTE2P3
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)nssv1962984
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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