A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450979



Internal ID229172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65058486..65060006hg38UCSC Ensembl
chr2:65285620..65287140hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381521
hg191521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914584
Samples
Known GenesCEP68
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450979
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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