A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352451



Internal ID22265010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080031..84080634hg38UCSC Ensembl
chrX:83335039..83335642hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192643
Supporting Variants
SamplesNA19238
Known GenesRPS6KA6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14352451
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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