A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234321



Internal ID21681830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88928230..88928230hg38UCSC Ensembl
chr1:89393913..89393913hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730965
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)nssv17234321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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