A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229909



Internal ID22371604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47651562..47654879hg38UCSC Ensembl
Outerchr7:47691160..47694477hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278532
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229909
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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