A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424370



Internal ID203363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77743648..77754515hg38UCSC Ensembl
chr1:78209333..78220200hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3810868
hg1910868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905388
Samples
Known GenesUSP33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424370
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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