A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453348



Internal ID231472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172526656..172527872hg38UCSC Ensembl
chr2:173391384..173392600hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922299
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453348
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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