A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219162



Internal ID22364272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:148733732..148740378hg38UCSC Ensembl
Outerchr6:149054868..149061514hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383372
hg193372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277622, nssv14277621, nssv14277623, nssv14277929, nssv14277930, nssv14277620, nssv14277932, nssv14277931, nssv14277619
SamplesHG00512, NA19238, NA19239, HG00731, 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)nsv3219162
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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