A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247799



Internal ID22376803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:55464229..55511347hg38UCSC Ensembl
chrX:55490662..55537780hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3847119
hg1947119
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457188, nssv14464824, nssv14458773, nssv14454015, nssv14462345, nssv14467042
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00514
Known GenesUSP51
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247799
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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