A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230232



Internal ID22371815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179679215..179695677hg38UCSC Ensembl
Outerchr1:179648350..179664812hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265479, nssv14265482, nssv14265480, nssv14265484, nssv14265483, nssv14265481
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesTDRD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230232
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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