A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3557n152



Internal ID22819260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39930278..39930709hg38UCSC Ensembl
chr17:38086531..38086962hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228258, nsv3224081
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3557n152
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