A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508332



Internal ID285027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45352643..45360937hg38UCSC Ensembl
chr13:45926778..45935072hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg388295
hg198295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687398
Samples
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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