A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211557



Internal ID22359079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:43379295..43398038hg38UCSC Ensembl
Outerchr2:43606434..43625177hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383533
hg193533
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267339, nssv14267338
SamplesNA19239, NA19240
Known GenesTHADA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211557
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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