A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17177142



Internal ID21624651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154457432..154457432hg38UCSC Ensembl
chr5:153836992..153836992hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685440
Supporting Variants
Samples
Known GenesSAP30L
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)nssv17177142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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