A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248634



Internal ID22377039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50675498..50687752hg38UCSC Ensembl
Outerchr22:51113926..51126180hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269205
SamplesHG00732
Known GenesSHANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248634
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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