A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241300



Internal ID22045910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231780237..231780237hg38UCSC Ensembl
chr1:231915983..231915983hg19UCSC Ensembl
Cytoband1q42.2
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 Variantsnssv17844398
Samples
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241300
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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