A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422168



Internal ID201219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14222883..14222883hg38UCSC Ensembl
chr16:14316740..14316740hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707978
Samples
Known GenesMKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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