A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505700



Internal ID282466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31702695..31711376hg38UCSC Ensembl
chr14:32171901..32180582hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg388682
hg198682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693555
Samples
Known GenesNUBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505700
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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