A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227878



Internal ID22370231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147869216..147880669hg38UCSC Ensembl
Outerchr6:148190352..148201805hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg382709
hg192709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277924, nssv14277926, nssv14277927, nssv14277925, nssv14277928, nssv14277923
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227878
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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