A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221023



Internal ID22365548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235385909..235414418hg38UCSC Ensembl
Outerchr1:235549224..235577733hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg384041
hg194041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265988, nssv14265993, nssv14265987, nssv14265991, nssv14265990, nssv14265994, nssv14265989, nssv14265992
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesTBCE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221023
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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