A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502408



Internal ID279277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78973567..78977182hg38UCSC Ensembl
chr13:79547702..79551317hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383616
hg193616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693291
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502408
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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