A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508620



Internal ID285308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49809119..49818025hg38UCSC Ensembl
chr13:50383255..50392161hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg388907
hg198907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687661
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508620
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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