A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234893



Internal ID21682402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71778246..71778246hg38UCSC Ensembl
chr17:69774387..69774387hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg383551
hg193551
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723230
Supporting Variants
Samples
Known Genes
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)nssv17234893
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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