A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721189



Internal ID21747510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8370886..8370886hg38UCSC Ensembl
chr17:8274204..8274204hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249395
Samples
Known GenesKRBA2
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)nsv5721189
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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