A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246152



Internal ID21693661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97563231..97563231hg38UCSC Ensembl
chr10:99322988..99322988hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725726
Supporting Variants
Samples
Known GenesUBTD1
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)nssv17246152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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