A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925530



Internal ID17768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152043722..152043809hg38UCSC Ensembl
chr2:152900236..152900323hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451856
Supporting Variants
Samples
Known GenesCACNB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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