A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009192



Internal ID18751723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3884069..4202163hg38UCSC Ensembl
Innerchr4:3885796..4203890hg19UCSC Ensembl
Innerchr4:3855594..4254791hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38318095
hg19318095
hg18399198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5085n100
Supporting Variantsnssv3738124, nssv3738125, nssv3738123, nssv3738126, nssv3738122
Samples
Known GenesFAM86EP, OTOP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009192
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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