A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843910



Internal ID22027553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51742282..51742282hg38UCSC Ensembl
chr12:52136066..52136066hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241035
Supporting Variants
Samples
Known GenesSCN8A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843910
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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