A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222044



Internal ID22364042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:33400692..33412739hg38UCSC Ensembl
OuterchrX:33418809..33430856hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg386189
hg196189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269044, nssv14269045, nssv14269043
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222044
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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