A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252146



Internal ID22056756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40415840..40415840hg38UCSC Ensembl
chr22:40811844..40811844hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849127
Samples
Known GenesMKL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252146
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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