A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740656



Internal ID164322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71625375..71626167hg38UCSC Ensembl
chrX:70845225..70846017hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430884
Supporting Variants
Samples
Known GenesBCYRN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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