A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268904



Internal ID22135970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67863558..67919572hg38UCSC Ensembl
OuterchrX:67083400..67139414hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3856015
hg1956015
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203874
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268904
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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