A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268440



Internal ID22266052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135603055..135700262hg38UCSC Ensembl
OuterchrX:134736980..134833977hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3897208
hg1996998
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194046
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268440
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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