A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901859



Internal ID22677012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123524704..123524822hg38UCSC Ensembl
chr3:123243551..123243669hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392370
Samples
Known GenesPTPLB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901859
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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