A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241386



Internal ID22045996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241147780..241147780hg38UCSC Ensembl
chr1:241311080..241311080hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845010
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241386
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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