A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712084



Internal ID21738405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51155296..51155296hg38UCSC Ensembl
chr13:51729432..51729432hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194501, nssv17227928
Samples
Known GenesLINC00371
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)nsv5712084
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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