A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219807



Internal ID22364708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85187788..85191606hg38UCSC Ensembl
Outerchr2:85414911..85418729hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382330
hg192330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267360, nssv14267359
SamplesHG00731, HG00733
Known GenesTCF7L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219807
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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