A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539296



Internal ID22408461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45349423..45350364hg38UCSC Ensembl
chr22:45745304..45746245hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305114, nssv14305116, nssv14305115, nssv14305117, nssv14305113, nssv14305120, nssv14305119, nssv14305118
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesSMC1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539296
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer