A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223168



Internal ID22367020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1923469..1942815hg38UCSC Ensembl
Outerchr7:1963105..1982450hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277889, nssv14277890, nssv14277892, nssv14277891
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesMAD1L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223168
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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