A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558543



Internal ID22427346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80193745..80193836hg38UCSC Ensembl
chrX:79449244..79449335hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14352382, nssv14352386, nssv14352383, nssv14352385, nssv14352381, nssv14352384
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558543
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer