A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268896



Internal ID22258637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55645251..55685445hg38UCSC Ensembl
OuterchrX:55671684..55711878hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg3840195
hg1940195
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198731
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268896
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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