A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222840



Internal ID22366788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3342128..3356126hg38UCSC Ensembl
Outerchr1:3258692..3272690hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260091, nssv14260088, nssv14260090, nssv14260087, nssv14260092, nssv14260089
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesPRDM16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222840
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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