A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718892



Internal ID21745213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19671824..19671824hg38UCSC Ensembl
chr1:19998317..19998317hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251012
Samples
Known GenesHTR6
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)nsv5718892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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