A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243782



Internal ID21691291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107332531..107332531hg38UCSC Ensembl
chr6:107653735..107653735hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721261
Supporting Variants
Samples
Known GenesPDSS2
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)nssv17243782
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