A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244619



Internal ID22375908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:31994301..32031964hg38UCSC Ensembl
Outerchr21:33366614..33404277hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267640, nssv14267648, nssv14267644, nssv14267647, nssv14267646, nssv14267642, nssv14267641, nssv14267643, nssv14267645
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHUNK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244619
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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