A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190820



Internal ID21638329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14219064..14219064hg38UCSC Ensembl
chr12:14371998..14371998hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702383
Supporting Variants
Samples
Known Genes
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)nssv17190820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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