A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223730



Internal ID22367413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19034633..19084845hg38UCSC Ensembl
Outerchr1:19361127..19411339hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260489, nssv14260488, nssv14260490, nssv14260487
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesUBR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223730
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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