A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249943



Internal ID21697452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86975699..86975699hg38UCSC Ensembl
chr1:87441382..87441382hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715322
Supporting Variants
Samples
Known GenesHS2ST1
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)nssv17249943
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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