A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17197840



Internal ID21645349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72193979..72193979hg38UCSC Ensembl
chr15:72486320..72486320hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5698740
Supporting Variants
Samples
Known GenesGRAMD2
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)nssv17197840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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