A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507588



Internal ID284303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90143819..90147911hg38UCSC Ensembl
chr14:90610163..90614255hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg384093
hg194093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697176
Samples
Known GenesKCNK13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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