A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719850



Internal ID21746171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76167971..76167971hg38UCSC Ensembl
chr1:76633656..76633656hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239841, nssv17235887
Samples
Known GenesST6GALNAC3
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)nsv5719850
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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