A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210989



Internal ID22358698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160837413..160863704hg38UCSC Ensembl
Outerchr6:161258445..161284736hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277708, nssv14277703, nssv14277702, nssv14277706, nssv14277704, nssv14277705, nssv14277709, nssv14277707
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210989
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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