A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214048



Internal ID22360812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:526782..557767hg38UCSC Ensembl
Outerchr7:566419..597404hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381234
hg191234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279578
SamplesNA19239
Known GenesPRKAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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