A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720214



Internal ID21746535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130928935..130928935hg38UCSC Ensembl
chr3:130647779..130647779hg19UCSC Ensembl
Cytoband3q22.1
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 Variantsnssv17252881
Samples
Known GenesATP2C1
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)nsv5720214
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