A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217863



Internal ID22363395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44178886..44196939hg38UCSC Ensembl
Outerchr6:44146623..44164676hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276546, nssv14276550, nssv14276549, nssv14276548, nssv14276547
SamplesNA19238, NA19239, HG00732, NA19240, HG00733
Known GenesCAPN11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217863
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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