A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843969



Internal ID22027612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94360189..94360189hg38UCSC Ensembl
chr12:94753965..94753965hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248460
Supporting Variants
Samples
Known GenesCCDC41
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843969
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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