A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728388



Internal ID21754709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44208147..44208147hg38UCSC Ensembl
chr11:44229697..44229697hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244065
Samples
Known GenesEXT2
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)nsv5728388
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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