A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236931



Internal ID21684440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55032840..55032840hg38UCSC Ensembl
chrX:55059273..55059273hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg383607
hg193607
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720978
Supporting Variants
Samples
Known Genes
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)nssv17236931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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