A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522854



Internal ID6020218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42120283..42931004hg19UCSC Ensembl
Innerchr19:46812123..47622844hg18UCSC Ensembl
Innerchr19:46812123..47622844hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv698508
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CNFN, DEDD2, DMRTC2, ERF, GRIK5, GSK3A, LIPE, LOC100505622, LYPD4, MEGF8, MIR4323, PAFAH1B3, POU2F2, PRR19, RABAC1, RPS19, TMEM145, ZNF526, ZNF574
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv522854
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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