A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511695



Internal ID288267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90175891..90176845hg38UCSC Ensembl
chr14:90642235..90643189hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697177
Samples
Known GenesKCNK13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511695
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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