A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269253



Internal ID22273675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:136061026..136076504hg38UCSC Ensembl
OuterchrX:135143185..135158663hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3815479
hg1915479
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202374
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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