A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6087796



Internal ID21997029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45339706..45339706hg38UCSC Ensembl
chr13:45913841..45913841hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17605760
Samples
Known GenesTPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6087796
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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