A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714953



Internal ID21741274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119155339..119155339hg38UCSC Ensembl
chr11:119026049..119026049hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244114
Samples
Known GenesABCG4
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)nsv5714953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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