A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244803



Internal ID21692312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100342226..100342226hg38UCSC Ensembl
chrX:99597224..99597224hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381255
hg191255
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725866
Supporting Variants
Samples
Known GenesPCDH19
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)nssv17244803
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