A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245812



Internal ID21693321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129543789..129543789hg38UCSC Ensembl
chrX:128677766..128677766hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729520
Supporting Variants
Samples
Known GenesOCRL
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)nssv17245812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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