A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748661



Internal ID20524688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123517905..123518220hg38UCSC Ensembl
chr3:123236752..123237067hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259342
Samples
Known GenesPTPLB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748661
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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