A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351218



Internal ID22139214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:51536782..52222904hg38UCSC Ensembl
chrX:51279634..51966031hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38686123
hg19686398
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557465
Supporting Variants
SamplesHG00513
Known GenesCENPVP1, CENPVP2, GSPT2, MAGED1, MAGED4, MAGED4B, SNORA11D, SNORA11E
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351218
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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