A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248594



Internal ID22053204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112850314..112850314hg38UCSC Ensembl
chr12:113288119..113288119hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844188
Samples
Known GenesRPH3A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248594
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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