A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845149



Internal ID22028792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31800846..31800846hg38UCSC Ensembl
chr13:32374983..32374983hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248873
Supporting Variants
Samples
Known GenesRXFP2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845149
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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