A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450127



Internal ID228344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37082459..37082515hg38UCSC Ensembl
chr2:37309602..37309658hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911456
Samples
Known GenesHEATR5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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