A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242638



Internal ID22375335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50641551..50684917hg38UCSC Ensembl
Outerchr22:51079979..51123345hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385263
hg195263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270038, nssv14270039, nssv14270037, nssv14270036, nssv14270035, nssv14270040
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00514
Known GenesSHANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242638
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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