A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444908



Internal ID223272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231561246..231561520hg38UCSC Ensembl
chr2:232425957..232426231hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926960
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444908
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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