A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497277



Internal ID274321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101450146..101459490hg38UCSC Ensembl
chr13:102102497..102111841hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg389345
hg199345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692175
Samples
Known GenesITGBL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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