A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718005



Internal ID21744326
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 StatusM
Merged Variants
Supporting Variantsnssv17234544, nssv17244008
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)nsv5718005
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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