A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696972



Internal ID21723293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994617..36994617hg38UCSC Ensembl
chr13:37568754..37568754hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232749, nssv17193477
Samples
Known GenesALG5
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)nsv5696972
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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