A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211563



Internal ID22359083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1503269..1539411hg38UCSC Ensembl
Outerchr2:1507041..1543183hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264938, nssv14264939
SamplesNA19238, NA19240
Known GenesTPO
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211563
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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