A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244008



Internal ID21691517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33091503..33091503hg38UCSC Ensembl
chr17:31418521..31418521hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718005
Supporting Variants
Samples
Known GenesASIC2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17244008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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