A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856976



Internal ID22040619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35041242..35041242hg38UCSC Ensembl
chr5:35041347..35041347hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260181
Supporting Variants
Samples
Known GenesAGXT2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856976
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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