A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720244



Internal ID21746565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63204104..63204104hg38UCSC Ensembl
chr17:61281465..61281465hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252380, nssv17237015
Samples
Known GenesTANC2
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)nsv5720244
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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