A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693605



Internal ID117271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32474582..32482139hg38UCSC Ensembl
chr14:32943788..32951345hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg387558
hg197558
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559388
Supporting Variants
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693605
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000781


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