A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726835



Internal ID21753156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128964220..128964220hg38UCSC Ensembl
chr9:131726499..131726499hg19UCSC Ensembl
Cytoband9q34.11
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 Variantsnssv17236543
Samples
Known GenesNUP188
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)nsv5726835
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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