A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270670



Internal ID22275879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27693371..27715172hg38UCSC Ensembl
OuterchrX:27711488..27733289hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3821802
hg1921802
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193150
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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