A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229166



Internal ID22371099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:154515602..154527284hg38UCSC Ensembl
Outerchr6:154836736..154848418hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277631, nssv14277629, nssv14277632, nssv14277630, nssv14277628, nssv14277633
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229166
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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