A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198233



Internal ID22347985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6002020..6008172hg38UCSC Ensembl
Outerchr1:6062080..6068232hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg386153
hg196153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255333, nssv14255334
SamplesHG00732, HG00513
Known GenesKCNAB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198233
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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