A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221379



Internal ID22365787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:211431327..211448085hg38UCSC Ensembl
Outerchr1:211604669..211621427hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382914
hg192914
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264933, nssv14264932
SamplesNA19238, NA19240
Known GenesLINC00467
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221379
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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