A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496157



Internal ID273241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70059875..70059959hg38UCSC Ensembl
chr14:70526592..70526676hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697863
Samples
Known GenesSLC8A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496157
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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