A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494595



Internal ID271732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93907811..93909155hg38UCSC Ensembl
chr14:94374157..94375501hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699143
Samples
Known GenesFAM181A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494595
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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