A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742208



Internal ID165874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124425400..124427474hg38UCSC Ensembl
chrX:123559250..123561324hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382075
hg192075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414569
Supporting Variants
Samples
Known GenesTENM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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