A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194697



Internal ID22344981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:74128560..74167524hg38UCSC Ensembl
Outerchr6:74838276..74877240hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3838965
hg1938965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274784, nssv14274783
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194697
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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