A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244346



Internal ID22048956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89831630..89831630hg38UCSC Ensembl
chr1:90297189..90297189hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17857667
Samples
Known GenesLRRC8D
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244346
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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