A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913109



Internal ID9494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53950609..53954058hg38UCSC Ensembl
chr2:54177746..54181195hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg383450
hg193450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444451
Supporting Variants
Samples
Known GenesPSME4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913109
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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