A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250103



Internal ID22054713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14266527..14266527hg38UCSC Ensembl
chr16:14360384..14360384hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846943
Samples
Known GenesMKL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250103
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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