A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353123



Internal ID22140414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100255754..100257866hg38UCSC Ensembl
chrX:99510752..99512864hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg382113
hg192113
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195460
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14353123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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