A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210606



Internal ID22358449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:10140050..10153358hg38UCSC Ensembl
Outerchr8:9997560..10010868hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279193, nssv14279191, nssv14279194, nssv14279189, nssv14279190, nssv14279192, nssv14279195
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesMSRA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210606
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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