A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499127



Internal ID276106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21117189..21119324hg38UCSC Ensembl
chr14:21585348..21587483hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695323
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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