A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217667



Internal ID21665176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1442009..1442009hg38UCSC Ensembl
chr6:1442244..1442244hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686628
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)nssv17217667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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