A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453223



Internal ID231353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10409782..10409904hg38UCSC Ensembl
chr2:10549908..10550030hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910003
Samples
Known GenesHPCAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453223
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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