A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205462



Internal ID21652971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:138970300..138970300hg38UCSC Ensembl
chrX:138052462..138052462hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727506
Supporting Variants
Samples
Known GenesFGF13
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)nssv17205462
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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