A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440773



Internal ID219272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208158663..208188130hg38UCSC Ensembl
chr2:209023387..209052854hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3829468
hg1929468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928039
Samples
Known GenesC2orf80, CRYGA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440773
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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