A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520239



Internal ID6012651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42357455..42931004hg19UCSC Ensembl
Innerchr19:47049295..47622844hg18UCSC Ensembl
Innerchr19:47049295..47622844hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv662078, nssv693635
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CIC, CNFN, DEDD2, ERF, GRIK5, GSK3A, LIPE, LOC100505622, MEGF8, MIR4323, PAFAH1B3, POU2F2, PRR19, RABAC1, RPS19, TMEM145, ZNF526, ZNF574
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv520239
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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