A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226855



Internal ID22369521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:45007088..45027378hg38UCSC Ensembl
Outerchr4:45009105..45029395hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273543, nssv14273540, nssv14273541, nssv14273542
SamplesHG00512, NA19238, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226855
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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