A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210908



Internal ID22358643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33181127..33188977hg38UCSC Ensembl
Outerchr1:33646728..33654578hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381719
hg191719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262045, nssv14262046, nssv14262041, nssv14262044, nssv14262039, nssv14262047, nssv14262043, nssv14262042, nssv14262040
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTRIM62
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210908
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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