A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222671



Internal ID22366674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93134902..93180146hg38UCSC Ensembl
Outerchr11:92868068..92913312hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3845245
hg1945245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253587, nssv14253588, nssv14253584, nssv14253583, nssv14253589, nssv14253586, nssv14253582, nssv14253585
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC36A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222671
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer