A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520239



Internal ID8414514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41853387..42426852hg38UCSC Ensembl
Innerchr19:42357455..42931004hg19UCSC Ensembl
Innerchr19:47049295..47622844hg18UCSC Ensembl
Innerchr19:47049295..47622844hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38573466
hg19573550
hg18573550
hg17573550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662078, nssv693635
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CIC, CNFN, DEDD2, ERF, GRIK5, GSK3A, LIPE, LIPE-AS1, LOC100505622, 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)nsv520239
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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