A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241219



Internal ID22045829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230180321..230180321hg38UCSC Ensembl
chr1:230316067..230316067hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844384
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241219
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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