A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243737



Internal ID22375659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49920965..49923563hg38UCSC Ensembl
Outerchr22:50314613..50317211hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269203
SamplesHG00732
Known GenesCRELD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243737
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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