A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228439



Internal ID22370619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6000156..6038586hg38UCSC Ensembl
Outerchr4:6001883..6040313hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383786
hg193786
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273212, nssv14273211
SamplesNA19239, NA19240
Known GenesJAKMIP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228439
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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