A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250577



Internal ID21698086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107288538..107288538hg38UCSC Ensembl
chr6:107609742..107609742hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719378
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)nssv17250577
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