A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844156



Internal ID22027799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76375755..76375755hg38UCSC Ensembl
chr12:76769535..76769535hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241239
Supporting Variants
Samples
Known GenesOSBPL8
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844156
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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