A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501794



Internal ID278684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48607836..48777938hg38UCSC Ensembl
chr14:49077039..49247141hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38170103
hg19170103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n206
Supporting Variantsnssv17697051
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501794
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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