A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270082



Internal ID22255296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150163817..150168356hg38UCSC Ensembl
OuterchrX:149332047..149336586hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384540
hg194540
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196641
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270082
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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