A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249254



Internal ID22053864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69712440..69712440hg38UCSC Ensembl
chr13:70286572..70286572hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845283
Samples
Known GenesKLHL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249254
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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