A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245861



Internal ID21693370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105496147..105496147hg38UCSC Ensembl
chrX:104740139..104740139hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721516
Supporting Variants
Samples
Known GenesIL1RAPL2
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)nssv17245861
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