A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452485



Internal ID230637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236990700..236991828hg38UCSC Ensembl
chr2:237899343..237900471hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926390
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452485
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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