A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452829



Internal ID230972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99736649..99739656hg38UCSC Ensembl
chr2:100353111..100356118hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918534
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452829
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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