A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193065



Internal ID22343560
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268346, nssv14268347
SamplesNA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193065
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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