A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719726



Internal ID21746047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36431651..36431651hg38UCSC Ensembl
chr1:36897252..36897252hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246201, nssv17239442
Samples
Known GenesOSCP1
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)nsv5719726
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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