A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719195



Internal ID21745516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116358862..116358862hg38UCSC Ensembl
chr12:116796667..116796667hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252531
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)nsv5719195
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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