A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225823



Internal ID22368836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144684663..144729010hg38UCSC Ensembl
Outerchr6:145005799..145050146hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383958
hg193958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277101, nssv14277103, nssv14277102, nssv14277099, nssv14277100
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesUTRN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225823
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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