A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280228



Internal ID22291790
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225188
Supporting Variants
SamplesNA19240
Known GenesPRKAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280228
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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