A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155874



Internal ID22086379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137287522..137308201hg38UCSC Ensembl
Outerchr2:137279780..137316225hg38UCSC Ensembl
Innerchr2:138045092..138065771hg19UCSC Ensembl
Outerchr2:138037350..138073795hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3836446
hg1936446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4014524
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155874
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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