A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696735



Internal ID120401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64467805..64467901hg38UCSC Ensembl
chr14:64934523..64934619hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494535
Supporting Variants
Samples
Known GenesAKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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