A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218624



Internal ID22363911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28641766..28725818hg38UCSC Ensembl
Outerchr6:28609543..28693595hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382391
hg192391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278389, nssv14278385, nssv14278388, nssv14278387, nssv14278386
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218624
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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