A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223193



Internal ID22367039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148184881..148199320hg38UCSC Ensembl
OuterchrX:147266401..147280840hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381164
hg191164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269659, nssv14269656, nssv14269653, nssv14269657, nssv14269660, nssv14269658, nssv14269654, nssv14269655
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223193
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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