A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195236



Internal ID22345448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71519015..71524722hg38UCSC Ensembl
OuterchrX:70738865..70744572hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385708
hg195708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268910, nssv14269840, nssv14269843, nssv14269842, nssv14268909, nssv14269841
SamplesNA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBCYRN1, TAF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195236
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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