A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349959



Internal ID22288778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16700168..16700499hg38UCSC Ensembl
chrX:16718291..16718622hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525408
Supporting Variants
SamplesNA19240
Known GenesCTPS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14349959
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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