A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724226



Internal ID21750547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132563380..132563380hg38UCSC Ensembl
chr10:134376884..134376884hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234605
Samples
Known GenesINPP5A
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)nsv5724226
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