A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544098



Internal ID318281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14245267..14245267hg38UCSC Ensembl
chr16:14339124..14339124hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707981
Samples
Known GenesMKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544098
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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