A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239659



Internal ID21687168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212225745..212225745hg38UCSC Ensembl
chr1:212399087..212399087hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718260
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)nssv17239659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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