A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270693



Internal ID22276852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:91652706..91743761hg38UCSC Ensembl
OuterchrX:90907705..90998760hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3891056
hg1991056
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192981
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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