A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268433



Internal ID22135824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129226307..129252778hg38UCSC Ensembl
OuterchrX:128360284..128386755hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3826472
hg1926472
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206637
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268433
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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