A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235540



Internal ID21683049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12227062..12227062hg38UCSC Ensembl
chr19:12337877..12337877hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725533
Supporting Variants
Samples
Known Genes
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)nssv17235540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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