A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238049



Internal ID21685558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32910144..32910144hg38UCSC Ensembl
chr1:33375745..33375745hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726574
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)nssv17238049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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