A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538781



Internal ID22407956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8987642..8987642hg38UCSC Ensembl
chr3:9029326..9029326hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304591, nssv14304594, nssv14304592, nssv14304589, nssv14304590, nssv14422886, nssv14304593
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesSRGAP3
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538781
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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