A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203529



Internal ID21651038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136745763..136745763hg38UCSC Ensembl
chrX:135827922..135827922hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730953
Supporting Variants
Samples
Known GenesARHGEF6
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)nssv17203529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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