A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196099



Internal ID22346170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104787302..104830184hg38UCSC Ensembl
Outerchr6:105235177..105278059hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3842883
hg1942883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276721, nssv14276720
SamplesHG00512, HG00733
Known GenesHACE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196099
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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