A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245746



Internal ID22050356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23342204..23342204hg38UCSC Ensembl
chr8:23199717..23199717hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839901
Samples
Known GenesLOC100507156, LOXL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245746
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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