A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222304



Internal ID22366416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:570701..591116hg38UCSC Ensembl
Outerchr7:610338..630753hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279580, nssv14279581, nssv14279579
SamplesNA19239, HG00732, HG00514
Known GenesPRKAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222304
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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