A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549036



Internal ID22417984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102259696..102405716hg38UCSC Ensembl
chrX:101514684..101660637hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38146021
hg19145954
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467142, nssv14461472, nssv14453913, nssv14459250, nssv14464080, nssv14461519, nssv14455432
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNXF2, NXF2B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549036
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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