A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212892



Internal ID22360005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146795643..146839485hg38UCSC Ensembl
OuterchrX:145877161..145921003hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381562
hg191562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269635, nssv14269631, nssv14269632, nssv14269637, nssv14269634, nssv14269633, nssv14269636, nssv14269630
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCXorf51A, CXorf51B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212892
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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