A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269860



Internal ID22146734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:77159713..77210043hg38UCSC Ensembl
OuterchrX:76380175..76430506hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3850331
hg1950332
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195219
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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