A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17222005



Internal ID21669514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:43771642..43771642hg38UCSC Ensembl
chrX:43630889..43630889hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727089
Supporting Variants
Samples
Known GenesMAOB
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)nssv17222005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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