A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034448



Internal ID18776982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118377006..118695220hg38UCSC Ensembl
Innerchr6:118698169..119016383hg19UCSC Ensembl
Innerchr6:118804862..119123076hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38318215
hg19318215
hg18318215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654329
Samples
Known GenesBRD7P3, CEP85L, PLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034448
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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