A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213236



Internal ID22360244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:31359835..31395981hg38UCSC Ensembl
Outerchr11:31381382..31417528hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3836147
hg1936147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253519
SamplesHG00731
Known GenesDCDC1, DNAJC24
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213236
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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