A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449539



Internal ID227771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30605952..30609326hg38UCSC Ensembl
chr2:30828818..30832192hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910420
Samples
Known GenesLCLAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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