A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238703



Internal ID21686212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12170227..12170227hg38UCSC Ensembl
chr3:12211727..12211727hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723819
Supporting Variants
Samples
Known GenesSYN2
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)nssv17238703
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