A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268901



Internal ID22257172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56633290..56648389hg38UCSC Ensembl
OuterchrX:56659723..56674822hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3815100
hg1915100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195398
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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