A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238678



Internal ID21686187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32975099..32975099hg38UCSC Ensembl
chr3:33016591..33016591hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722385
Supporting Variants
Samples
Known Genes
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)nssv17238678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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