A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497198



Internal ID274245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29787673..29793714hg38UCSC Ensembl
chr13:30361810..30367851hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386042
hg196042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686554
Samples
Known GenesUBL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497198
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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