A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218600



Internal ID22363893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39481631..39481691hg38UCSC Ensembl
chr17:37637884..37637944hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3554n152
Supporting Variantsnssv14379842, nssv14391490, nssv14373848, nssv14380477
SamplesHG00512, NA19239, NA19240, HG00513
Known GenesCDK12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218600
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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