A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236349



Internal ID21683858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48283471..48283471hg38UCSC Ensembl
chr15:48575668..48575668hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727882
Supporting Variants
Samples
Known GenesSLC12A1
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)nssv17236349
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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