A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852363



Internal ID22036006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48653080..48653080hg38UCSC Ensembl
chr1:49118752..49118752hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243324
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852363
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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