A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704200



Internal ID21730521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41467968..41467968hg38UCSC Ensembl
chr13:42042104..42042104hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194056, nssv17229340
Samples
Known GenesRGCC
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)nsv5704200
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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