A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194598



Internal ID22344891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:127702867..127757716hg38UCSC Ensembl
Outerchr6:128024012..128078861hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3854850
hg1954850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274801, nssv14275331
SamplesHG00731, HG00732
Known GenesTHEMIS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194598
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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