A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207167



Internal ID22355599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147595416..147640107hg38UCSC Ensembl
Outerchr6:147916552..147961243hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3844692
hg1944692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276648, nssv14276647
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207167
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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