A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268432



Internal ID22258001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:125251074..125282362hg38UCSC Ensembl
OuterchrX:124384923..124416211hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3831289
hg1931289
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204549
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268432
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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