A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449514



Internal ID22507384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134378105..134393498hg38UCSC Ensembl
chrX:133512135..133527528hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3815394
hg1915394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874191
Supporting Variants
Samples
Known GenesPHF6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449514
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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