A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193150



Internal ID22343634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27693371..27715172hg38UCSC Ensembl
OuterchrX:27711488..27733289hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3821802
hg1921802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270670
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193150
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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