A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742432



Internal ID166098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134386900..134389034hg38UCSC Ensembl
chrX:133520930..133523064hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414344
Supporting Variants
Samples
Known GenesPHF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742432
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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