A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252006



Internal ID21699515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200801753..200801753hg38UCSC Ensembl
chr2:201666476..201666476hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723110
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)nssv17252006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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