A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219119



Internal ID22364242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3215873..3226238hg38UCSC Ensembl
Outerchr6:3216107..3226472hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275394, nssv14275396, nssv14275400, nssv14275395, nssv14275402, nssv14275401, nssv14275398, nssv14275397, nssv14275399
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTUBB2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219119
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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