A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268347



Internal ID22258099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:93533250..93548633hg38UCSC Ensembl
OuterchrX:92788249..92803632hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg3815384
hg1915384
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193065
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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