A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220776



Internal ID22365379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:410583..611090hg38UCSC Ensembl
OuterchrX:371318..571825hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3813419
hg1913419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9875n152
Supporting Variantsnssv14269479, nssv14269477, nssv14269476, nssv14269478, nssv14269475
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220776
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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