A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843957



Internal ID22027600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92118948..92118948hg38UCSC Ensembl
chr12:92512724..92512724hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248448
Supporting Variants
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843957
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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