A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269203



Internal ID22204365
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243737
Supporting Variants
SamplesHG00732
Known GenesCRELD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269203
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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