A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248562



Internal ID22053172
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 StatusM
Merged Variants
Supporting Variantsnssv17845107
Samples
Known GenesLOC100287944, POLR3B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248562
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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