A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701821



Internal ID21728142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18742950..18742950hg38UCSC Ensembl
chr9:18742948..18742948hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186541, nssv17229890
Samples
Known GenesADAMTSL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5701821
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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