A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205401



Internal ID22354096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81813579..81851844hg38UCSC Ensembl
OuterchrX:81069078..81107343hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3838266
hg1938266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10173n152
Supporting Variantsnssv14268322, nssv14268317, nssv14268320, nssv14268318, nssv14268319, nssv14268321
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205401
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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