A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450318



Internal ID228528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123517910..123518214hg38UCSC Ensembl
chr3:123236757..123237061hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937567
Samples
Known GenesPTPLB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450318
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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