A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740703



Internal ID164369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72707455..72707602hg38UCSC Ensembl
chrX:71927304..71927451hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431907
Supporting Variants
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740703
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005464


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