A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198999



Internal ID22348652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168267014..168336354hg38UCSC Ensembl
Outerchr6:168667694..168737034hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3869341
hg1969341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276055, nssv14276056, nssv14276061, nssv14276057, nssv14276063, nssv14276059, nssv14276062, nssv14276058, nssv14276060
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDACT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198999
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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