A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268908



Internal ID22265266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:69495866..69510707hg38UCSC Ensembl
OuterchrX:68715709..68730550hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3814842
hg1914842
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196496
Supporting Variants
SamplesNA19238
Known GenesFAM155B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268908
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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