A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430877



Internal ID209671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113906280..113906717hg38UCSC Ensembl
chr1:114448902..114449339hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889559
Samples
Known GenesDCLRE1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430877
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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