A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508528



Internal ID285216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48734919..48737904hg38UCSC Ensembl
chr13:49309055..49312040hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687605
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508528
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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