A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496079



Internal ID273165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76195955..76201055hg38UCSC Ensembl
chr13:76770091..76775191hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692798
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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