A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7431n152



Internal ID22823134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736196..88736540hg38UCSC Ensembl
chr5:88032013..88032357hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3178772, nsv3523503, nsv3188158, nsv3175074
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMEF2C
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)dgv7431n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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