A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508220



Internal ID284915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76264105..76266348hg38UCSC Ensembl
chr13:76838241..76840484hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg382244
hg192244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692801
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508220
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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