A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728041



Internal ID21754362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118441283..118441283hg38UCSC Ensembl
chr11:118311998..118311998hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241506, nssv17251300
Samples
Known GenesKMT2A
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)nsv5728041
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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