A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212176



Internal ID22359506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:69501109..69510018hg38UCSC Ensembl
OuterchrX:68720952..68729861hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270593, nssv14270594
SamplesHG00732, HG00513
Known GenesFAM155B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212176
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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