A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213587



Internal ID22360489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120308025..120590357hg38UCSC Ensembl
Outerchr1:144502183..144964595hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388352
hg198352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271397, nssv14271399, nssv14271398
SamplesHG00512, HG00731, HG00732
Known GenesLOC100288142, LOC653513, LOC728875, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213587
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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