A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460193



Internal ID22518079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72680581..72682958hg38UCSC Ensembl
chrX:71900431..71902808hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg382378
hg192378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876419
Supporting Variants
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460193
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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