A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243472



Internal ID22048082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172730338..172730338hg38UCSC Ensembl
chr2:173595066..173595066hg19UCSC Ensembl
Cytoband2q31.1
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 Variantsnssv17851051
Samples
Known GenesRAPGEF4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243472
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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