A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216319



Internal ID22362349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48958091..48964275hg38UCSC Ensembl
Outerchr1:49423763..49429947hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385613
hg195613
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267704, nssv14267706, nssv14267705, nssv14267703
SamplesHG00512, NA19239, HG00732, HG00733
Known GenesAGBL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216319
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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