A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236335



Internal ID21683844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:811299..811299hg38UCSC Ensembl
chr18:811300..811300hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722405
Supporting Variants
Samples
Known GenesYES1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17236335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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