A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548197



Internal ID321974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72711068..72711468hg38UCSC Ensembl
chrX:71930910..71931310hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740705
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548197
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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