A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728042



Internal ID21754363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143346793..143346793hg38UCSC Ensembl
chr3:143065635..143065635hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234595, nssv17252753
Samples
Known GenesSLC9A9, SLC9A9-AS1
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)nsv5728042
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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