A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722111



Internal ID21748432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74995644..74995644hg38UCSC Ensembl
chr11:74706689..74706689hg19UCSC Ensembl
Cytoband11q13.4
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 Variantsnssv17236694, nssv17252901
Samples
Known GenesNEU3
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)nsv5722111
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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