A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547524



Internal ID321363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73005305..73077702hg38UCSC Ensembl
chrX:72225144..72297541hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3872398
hg1972398
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740708
Samples
Known GenesPABPC1L2A, PABPC1L2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547524
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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