A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742281



Internal ID165947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126485966..126486283hg38UCSC Ensembl
chrX:125619949..125620266hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419071
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742281
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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