A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419336



Internal ID198469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32078874..32083005hg38UCSC Ensembl
chr1:32544475..32548606hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg384132
hg194132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901361
Samples
Known GenesTMEM39B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419336
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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