A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728040



Internal ID21754361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102368922..102368922hg38UCSC Ensembl
chr11:102239653..102239653hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251609
Samples
Known GenesBIRC2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5728040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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