A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245302



Internal ID21692811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121718389..121718389hg38UCSC Ensembl
chr10:123477903..123477903hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722957
Supporting Variants
Samples
Known Genes
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)nssv17245302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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