A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245733



Internal ID21693242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97928928..97928928hg38UCSC Ensembl
chr9:100691210..100691210hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724641
Supporting Variants
Samples
Known GenesHEMGN
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)nssv17245733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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