A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248871



Internal ID22053481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31765031..31765031hg38UCSC Ensembl
chr13:32339168..32339168hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845147
Samples
Known GenesRXFP2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248871
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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