A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495370



Internal ID272487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32655863..32656282hg38UCSC Ensembl
chr14:33125069..33125488hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693613
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495370
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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