A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17214417



Internal ID21661926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38477244..38477244hg38UCSC Ensembl
chr15:38769445..38769445hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696223
Supporting Variants
Samples
Known GenesFAM98B
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)nssv17214417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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