A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194377



Internal ID22344695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34336710..34358768hg38UCSC Ensembl
Outerchr6:34304487..34326545hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3822059
hg1922059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277124, nssv14277125
SamplesNA19238, NA19240
Known GenesNUDT3, RPS10-NUDT3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194377
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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