A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14352122



Internal ID22284573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68325584..68327803hg38UCSC Ensembl
chrX:67545426..67547645hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382220
hg192220
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525310
Supporting Variants
SamplesNA19239
Known GenesOPHN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14352122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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