A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277843



Internal ID22121435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:542457..591116hg38UCSC Ensembl
Outerchr7:582094..630753hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg382167
hg192167
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219006
Supporting Variants
SamplesHG00512
Known GenesPRKAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277843
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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