A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17516701



Internal ID22574664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72682302..72701844hg38UCSC Ensembl
chrX:71902152..71921694hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3819543
hg1919543
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969820
Supporting Variants
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17516701
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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