A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194239



Internal ID22344582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44540292..44553249hg38UCSC Ensembl
Outerchr6:44508029..44520986hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3812958
hg1912958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276113, nssv14276114
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194239
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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