A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1962739



Internal ID17524006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45338677..45341691hg38UCSC Ensembl
Innerchr13:45912812..45915826hg19UCSC Ensembl
Innerchr13:44810812..44813826hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg383015
hg193015
hg183015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977234
Supporting Variants
SamplesHGDP01284
Known GenesTPT1, TPT1-AS1
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)nssv1962739
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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