A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500824



Internal ID277749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48203735..48215472hg38UCSC Ensembl
chr14:48672938..48684675hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3811738
hg1911738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694807
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500824
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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