A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064754



Internal ID18807285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5956634..6604594hg38UCSC Ensembl
Innerchr18:5956633..6604593hg19UCSC Ensembl
Innerchr18:5946633..6594593hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38647961
hg19647961
hg18647961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3318n100
Supporting Variantsnssv3564082
Samples
Known GenesC18orf64, L3MBTL4, MIR4317
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064754
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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