A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451848



Internal ID230016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44340603..44345351hg38UCSC Ensembl
chr3:44382095..44386843hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384749
hg194749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931689
Samples
Known GenesTCAIM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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