A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243071



Internal ID21690580
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 StatusS
Merged Variantsnsv5727094
Supporting Variants
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)nssv17243071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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