A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442079



Internal ID220522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57572251..57601692hg38UCSC Ensembl
chr2:57799386..57828827hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3829442
hg1929442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913491
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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