A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452767



Internal ID230911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224392934..224393022hg38UCSC Ensembl
chr2:225257651..225257739hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928372
Samples
Known GenesFAM124B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452767
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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