A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742431



Internal ID166097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134384938..134386609hg38UCSC Ensembl
chrX:133518968..133520639hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381672
hg191672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420497
Supporting Variants
Samples
Known GenesPHF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742431
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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