A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228681



Internal ID22370787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170494412..170510954hg38UCSC Ensembl
Outerchr6:170803500..170820042hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278327, nssv14278326, nssv14278328, nssv14278330, nssv14278329
SamplesHG00512, NA19238, NA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228681
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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