A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730180



Internal ID21756501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28992327..28992327hg38UCSC Ensembl
chr17:27319345..27319345hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234899
Samples
Known GenesSEZ6
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)nsv5730180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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