A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691073



Internal ID21717394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75358155..75358155hg38UCSC Ensembl
chr5:74653980..74653980hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213171, nssv17177074
Samples
Known GenesHMGCR
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)nsv5691073
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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