A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741000



Internal ID164666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80671040..80715754hg38UCSC Ensembl
chrX:79926539..79971253hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3844715
hg1944715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138372
Supporting Variants
Samples
Known GenesBRWD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741000
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000416406


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