A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201039



Internal ID22350401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:61270790..61521677hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38250888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274992, nssv14274993, nssv14274991, nssv14274989, nssv14274988, nssv14274990
SamplesNA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201039
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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