A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722671



Internal ID21748992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21026920..21026920hg38UCSC Ensembl
chr18:18606881..18606881hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250779, nssv17240468
Samples
Known GenesROCK1
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)nsv5722671
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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