A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242588



Internal ID21690097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228932331..228932331hg38UCSC Ensembl
chr1:229068078..229068078hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722465
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)nssv17242588
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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