A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698684



Internal ID122350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96242926..96243477hg38UCSC Ensembl
chr14:96709263..96709814hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509954
Supporting Variants
Samples
Known GenesBDKRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698684
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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