A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937568



Internal ID25767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123524704..123524825hg38UCSC Ensembl
chr3:123243551..123243672hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443058
Supporting Variants
Samples
Known GenesPTPLB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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