A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1070n145



Internal ID22814086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129444679..129447582hg38UCSC Ensembl
chr6:129765824..129768727hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg382904
hg192904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3114730, nsv3113459
Samplessample400, sample299
Known GenesLAMA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1070n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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