A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248891



Internal ID22377124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50678047..50680229hg38UCSC Ensembl
Outerchr19:51181304..51183486hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263690
SamplesNA19240
Known GenesSHANK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248891
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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