A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699336



Internal ID21725657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134844538..134844538hg38UCSC Ensembl
chr9:137736384..137736384hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186978
Samples
Known GenesCOL5A1, LOC101448202
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)nsv5699336
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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