A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217435



Internal ID22363091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45058256..45090006hg38UCSC Ensembl
Outerchr2:45285395..45317145hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382534
hg192534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267343, nssv14267349, nssv14267345, nssv14267347, nssv14267346, nssv14267348, nssv14267344
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217435
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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