A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235518



Internal ID21683027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71768286..71768286hg38UCSC Ensembl
chr15:72060625..72060625hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727372
Supporting Variants
Samples
Known GenesTHSD4
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)nssv17235518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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