A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717392



Internal ID21743713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122287583..122287583hg38UCSC Ensembl
chr9:125049862..125049862hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235384
Samples
Known GenesMRRF
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)nsv5717392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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