A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17229981



Internal ID21677490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132314706..132314706hg38UCSC Ensembl
chr5:131650399..131650399hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675130
Supporting Variants
Samples
Known GenesLOC553103, SLC22A4
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)nssv17229981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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