A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522854



Internal ID8417129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41613927..42426852hg38UCSC Ensembl
Innerchr19:42120283..42931004hg19UCSC Ensembl
Innerchr19:46812123..47622844hg18UCSC Ensembl
Innerchr19:46812123..47622844hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38812926
hg19810722
hg18810722
hg17810722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698508
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CNFN, DEDD2, DMRTC2, ERF, GRIK5, GSK3A, LIPE, LIPE-AS1, LOC100505622, LYPD4, MEGF8, MIR4323, MIR6797, MIR8077, PAFAH1B3, POU2F2, PRR19, RABAC1, RPS19, TMEM145, ZNF526, ZNF574
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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