A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722889



Internal ID21749210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53935467..53935467hg38UCSC Ensembl
chr1:54401140..54401140hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237310, nssv17251267
Samples
Known GenesHSPB11
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)nsv5722889
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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