A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224776



Internal ID22368104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172160489..172169939hg38UCSC Ensembl
Outerchr3:171878279..171887729hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272101
SamplesHG00733
Known GenesFNDC3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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