A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450725



Internal ID228924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37959419..37960418hg38UCSC Ensembl
chr3:38000910..38001909hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931840
Samples
Known GenesCTDSPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450725
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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