A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185546



Internal ID21633055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112249907..112249907hg38UCSC Ensembl
chr8:113262136..113262136hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701025
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17185546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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