A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709136



Internal ID21735457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44039980..44039980hg38UCSC Ensembl
chr13:44614116..44614116hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193876
Samples
Known Genes
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)nsv5709136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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