A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236128



Internal ID22373492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43320530..43343888hg38UCSC Ensembl
Outerchr22:43716536..43739894hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269190, nssv14269189
SamplesHG00731, HG00732
Known GenesSCUBE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236128
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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