A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226302



Internal ID22369149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3312684..3335751hg38UCSC Ensembl
Outerchr2:3316455..3339522hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381994
hg191994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266799, nssv14266800
SamplesNA19239, HG00731
Known GenesTSSC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226302
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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