A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692530



Internal ID21718851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135504682..135504682hg38UCSC Ensembl
chr6:135825820..135825820hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179718
Samples
Known GenesLINC00271
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)nsv5692530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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