A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512147



Internal ID288713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48316853..48444869hg38UCSC Ensembl
chr14:48786056..48914072hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38128017
hg19128017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694820
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512147
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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