A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727511



Internal ID21753832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78235466..78235466hg38UCSC Ensembl
chr11:77946512..77946512hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234294
Samples
Known GenesGAB2
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)nsv5727511
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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