A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925529



Internal ID17767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152041119..152041352hg38UCSC Ensembl
chr2:152897633..152897866hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441936
Supporting Variants
Samples
Known GenesCACNB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925529
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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