A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845107



Internal ID22028750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106497183..106497183hg38UCSC Ensembl
chr12:106890961..106890961hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248562
Supporting Variants
Samples
Known GenesLOC100287944, POLR3B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845107
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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