A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727094



Internal ID21753415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18092163..18092163hg38UCSC Ensembl
chr17:17995477..17995477hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243071, nssv17243826
Samples
Known GenesDRG2
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)nsv5727094
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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