A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499515



Internal ID276487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75099713..75100306hg38UCSC Ensembl
chr14:75566416..75567009hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699333
Samples
Known GenesNEK9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499515
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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