A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196030



Internal ID21643539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:27091077..27091077hg38UCSC Ensembl
chr15:27336224..27336224hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701624
Supporting Variants
Samples
Known GenesGABRG3
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)nssv17196030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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