A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449905



Internal ID228129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171921290..171921347hg38UCSC Ensembl
chr2:172777800..172777857hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922498
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449905
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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