A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252756



Internal ID21700265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59328179..59328179hg38UCSC Ensembl
chr18:56995411..56995411hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715209
Supporting Variants
Samples
Known GenesLMAN1
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)nssv17252756
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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