A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224277



Internal ID22367756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:168584..267248hg38UCSC Ensembl
Outerchr7:168584..307214hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277821, nssv14277820
SamplesNA19238, HG00732
Known GenesFAM20C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224277
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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