A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214045



Internal ID22360809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18923488..18928989hg38UCSC Ensembl
Outerchr1:19249982..19255483hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260436, nssv14260432, nssv14260433, nssv14260434, nssv14260435, nssv14260437
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesIFFO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214045
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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