A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498173



Internal ID275175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36694801..36694873hg38UCSC Ensembl
chr14:37164006..37164078hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696902
Samples
Known GenesSLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498173
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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