A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499448



Internal ID276420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48593085..48828859hg38UCSC Ensembl
chr14:49062288..49298062hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38235775
hg19235775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n206
Supporting Variantsnssv17697048
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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