A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247507



Internal ID21695016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50936948..50936948hg38UCSC Ensembl
chr17:49014309..49014309hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715057
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)nssv17247507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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