A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718109



Internal ID21744430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6180144..6180144hg38UCSC Ensembl
chr12:6289310..6289310hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251093, nssv17243006
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718109
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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