A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222095



Internal ID22366279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:142821053..142823867hg38UCSC Ensembl
Outerchr2:143578622..143581436hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383263
hg193263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265983, nssv14265984
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222095
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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