A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203445



Internal ID21650954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101237589..101237589hg38UCSC Ensembl
chrX:100492578..100492578hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728826
Supporting Variants
Samples
Known GenesDRP2
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)nssv17203445
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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