A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210436



Internal ID22358338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:18104832..18144162hg38UCSC Ensembl
Outerchr6:18105063..18144393hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg382182
hg192182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278349, nssv14278350
SamplesNA19239, NA19240
Known GenesNHLRC1, TPMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210436
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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