A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190195



Internal ID21637704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223708232..223708232hg38UCSC Ensembl
chr1:223895934..223895934hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685941
Supporting Variants
Samples
Known GenesCAPN2
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)nssv17190195
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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