A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724580



Internal ID21750901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58069401..58069401hg38UCSC Ensembl
chr11:57836873..57836873hg19UCSC Ensembl
Cytoband11q12.1
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 Variantsnssv17249692
Samples
Known GenesOR9Q1
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)nsv5724580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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