A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742552



Internal ID166218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136745763..136745814hg38UCSC Ensembl
chrX:135827922..135827973hg19UCSC 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 Variantsnsv5555853
Supporting Variants
Samples
Known GenesARHGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742552
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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