A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726713



Internal ID21753034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24507045..24507045hg38UCSC Ensembl
chr1:24833535..24833535hg19UCSC Ensembl
Cytoband1p36.11
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 Variantsnssv17246470
Samples
Known GenesRCAN3
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)nsv5726713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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