A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351257



Internal ID22263568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:54187509..54187977hg38UCSC Ensembl
chrX:54213942..54214410hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198654
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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