A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715322



Internal ID21741643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86975699..86975699hg38UCSC Ensembl
chr1:87441382..87441382hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249943, nssv17238053
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)nsv5715322
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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