A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248061



Internal ID21695570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3972756..3972756hg38UCSC Ensembl
chr11:3993986..3993986hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714745
Supporting Variants
Samples
Known GenesSTIM1
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)nssv17248061
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