A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500634



Internal ID277565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47944878..47964624hg38UCSC Ensembl
chr14:48414081..48433827hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3819747
hg1919747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694787
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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