A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269780



Internal ID22286047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49609550..49639290hg38UCSC Ensembl
OuterchrX:49374153..49403893hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3829741
hg1929741
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201841
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269780
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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