A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445513



Internal ID223860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112562485..112563158hg38UCSC Ensembl
chr2:113320062..113320735hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917961
Samples
Known GenesPOLR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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