A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727779



Internal ID21754100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:63146132..63146132hg38UCSC Ensembl
chr10:64905892..64905892hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38852
hg19852
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250329
Samples
Known GenesNRBF2
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)nsv5727779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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