A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223507



Internal ID22367254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5998652..6009362hg38UCSC Ensembl
Outerchr4:6000379..6011089hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381668
hg191668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273392, nssv14273394, nssv14273393, nssv14273396, nssv14273395, nssv14272909, nssv14273397
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223507
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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