A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238006



Internal ID22374031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19149565..19167536hg38UCSC Ensembl
Outerchr22:19137078..19155049hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268625, nssv14268624
SamplesHG00512, HG00514
Known GenesGSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238006
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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