A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940962



Internal ID22716378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45352499..45359271hg38UCSC Ensembl
chr13:45926634..45933406hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg386773
hg196773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382634
Samples
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940962
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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