A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502330



Internal ID279200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49929921..49930674hg38UCSC Ensembl
chr14:50396639..50397392hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696685
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502330
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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