A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742464



Internal ID166130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135151381..135198000hg38UCSC Ensembl
chrX:134285308..134331931hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3846620
hg1946624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426305
Supporting Variants
Samples
Known GenesCXorf48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000209074


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