A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234353



Internal ID21681862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143028899..143028899hg38UCSC Ensembl
chr3:142747741..142747741hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715499
Supporting Variants
Samples
Known GenesU2SURP
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)nssv17234353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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