A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011749



Internal ID18754283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3884069..4184322hg38UCSC Ensembl
Innerchr4:3885796..4186049hg19UCSC Ensembl
Innerchr4:3855594..4236950hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38300254
hg19300254
hg18381357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5085n100
Supporting Variantsnssv3738119, nssv3738117, nssv3738120, nssv3738118
Samples
Known GenesFAM86EP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011749
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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