A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443814



Internal ID222201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177043004..177043054hg38UCSC Ensembl
chr3:176760792..176760842hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943531
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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