A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220471



Internal ID22365157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:109042303..109055002hg38UCSC Ensembl
Outerchr6:109363506..109376205hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278930, nssv14278929
SamplesNA19239, HG00731
Known GenesSESN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220471
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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