A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219372



Internal ID22364411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54997201..55006299hg38UCSC Ensembl
Outerchr1:55462874..55471972hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262689, nssv14262687, nssv14262692, nssv14262690, nssv14262686, nssv14262688, nssv14262691
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesBSND
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219372
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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