A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223337



Internal ID22367137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6242697..6282825hg38UCSC Ensembl
Outerchr6:6242930..6283058hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg384426
hg194426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275418, nssv14275417
SamplesNA19238, NA19240
Known GenesF13A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223337
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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