A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438560



Internal ID217121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219197950..219200158hg38UCSC Ensembl
chr2:220062672..220064880hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382209
hg192209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925988
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438560
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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