A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244157



Internal ID21691666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109369529..109369529hg38UCSC Ensembl
chr8:110381758..110381758hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715226
Supporting Variants
Samples
Known GenesPKHD1L1
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)nssv17244157
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