A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205286



Internal ID21652795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44702257..44702257hg38UCSC Ensembl
chrX:44561503..44561503hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717806
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17205286
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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