A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225188



Internal ID22368394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:633225..642505hg38UCSC Ensembl
Outerchr7:672862..682142hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280227, nssv14280228
SamplesHG00512, NA19240
Known GenesPRKAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225188
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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