A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497216



Internal ID274263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51741228..51742008hg38UCSC Ensembl
chr14:52207946..52208726hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696187
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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