A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696902



Internal ID21723223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76883285..76883285hg38UCSC Ensembl
chr13:77457420..77457420hg19UCSC Ensembl
Cytoband13q22.3
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 Variantsnssv17194992
Samples
Known GenesKCTD12
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)nsv5696902
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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