A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243696



Internal ID21691205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55096682..55096682hg38UCSC Ensembl
chr17:53174043..53174043hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724824
Supporting Variants
Samples
Known GenesSTXBP4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17243696
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