A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741782



Internal ID165448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103488000..103524542hg38UCSC Ensembl
chrX:102742928..102779470hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3836543
hg1936543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422167
Supporting Variants
Samples
Known GenesRAB40A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626697


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