A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223804



Internal ID22367467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3357053..3364950hg38UCSC Ensembl
Outerchr1:3273617..3281514hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269694
SamplesNA19240
Known GenesPRDM16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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