A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449314



Internal ID227555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144333057..144333150hg38UCSC Ensembl
chr2:145090624..145090717hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920416
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449314
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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