A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504274



Internal ID281081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106510590..106510776hg38UCSC Ensembl
chr13:107162938..107163124hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692326
Samples
Known GenesEFNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504274
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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