A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510740



Internal ID287349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70350166..70354136hg38UCSC Ensembl
chr14:70816883..70820853hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383971
hg193971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697887
Samples
Known GenesCOX16, SYNJ2BP-COX16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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