A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194762



Internal ID21642271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38198330..38198330hg38UCSC Ensembl
chr14:38667535..38667535hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701173
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)nssv17194762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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