A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268455



Internal ID22258725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143320132..143419531hg38UCSC Ensembl
OuterchrX:142407927..142507327hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3899400
hg1999401
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202716
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268455
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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