A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215469



Internal ID21662978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:51422992..51422992hg38UCSC Ensembl
chrX:51165844..51165844hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg384776
hg194776
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726082
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)nssv17215469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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