A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694153



Internal ID21720474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71593572..71593572hg38UCSC Ensembl
chr5:70889399..70889399hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176265, nssv17211009
Samples
Known GenesMCCC2
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)nsv5694153
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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