A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905989



Internal ID4792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54146186..54149509hg38UCSC Ensembl
chr1:54611859..54615182hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383324
hg193324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415700
Supporting Variants
Samples
Known GenesCDCP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905989
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009835


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