A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269463



Internal ID22204424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143320132..143406985hg38UCSC Ensembl
OuterchrX:142407927..142494780hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3886854
hg1986854
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195180
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269463
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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