A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211843



Internal ID22359271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73504033..73518473hg38UCSC Ensembl
Outerchr6:74213756..74228196hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278909, nssv14278908, nssv14278910, nssv14278911
SamplesHG00512, NA19239, HG00731, HG00732
Known GenesEEF1A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211843
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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