A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191722



Internal ID22342391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11694053..11738452hg38UCSC Ensembl
OuterchrX:11712173..11756571hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3844400
hg1944399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268803, nssv14268804, nssv14268802
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191722
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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