A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727204



Internal ID21753525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122799120..122799120hg38UCSC Ensembl
chr5:122134815..122134815hg19UCSC Ensembl
Cytoband5q23.2
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 Variantsnssv17242043
Samples
Known GenesSNX2
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)nsv5727204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer