A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1106n145



Internal ID22814122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50790636..50795484hg38UCSC Ensembl
chr7:50858333..50863181hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg384849
hg194849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117059, nsv3113808
Samplessample412, sample285
Known GenesGRB10
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1106n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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