A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724692



Internal ID21751013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64094386..64094386hg38UCSC Ensembl
chr17:62171746..62171746hg19UCSC 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 Variantsnssv17245191
Samples
Known GenesERN1
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)nsv5724692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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