A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214888



Internal ID22361398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72087831..72100103hg38UCSC Ensembl
Outerchr6:72797534..72809806hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386079
hg196079
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279396, nssv14279397, nssv14279394, nssv14279395
SamplesHG00512, HG00731, HG00733, HG00514
Known GenesRIMS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214888
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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