A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692324



Internal ID115990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106496338..106496409hg38UCSC Ensembl
chr13:107148686..107148757hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508196
Supporting Variants
Samples
Known GenesEFNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692324
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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