A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220175



Internal ID21667684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114736523..114736523hg38UCSC Ensembl
chrX:113970930..113970930hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730014
Supporting Variants
Samples
Known GenesHTR2C
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)nssv17220175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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