A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452496



Internal ID230648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159484096..159572768hg38UCSC Ensembl
chr2:160340607..160429279hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3888673
hg1988673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921337
Samples
Known GenesBAZ2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452496
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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