A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448944



Internal ID227196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147312303..147313055hg38UCSC Ensembl
chr2:148069871..148070623hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925434
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448944
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer