A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211849



Internal ID22359275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:633225..665154hg38UCSC Ensembl
Outerchr7:672862..704791hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3831930
hg1931930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278218, nssv14278219
SamplesNA19239, NA19240
Known GenesPRKAR1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211849
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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