A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728362



Internal ID21754683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111240701..111240701hg38UCSC Ensembl
chr1:111783323..111783323hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381119
hg191119
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244646
Samples
Known GenesCHI3L2
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)nsv5728362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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