A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv327n100



Internal ID19010695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146028214..148860637hg38UCSC Ensembl
chr1:145023783..145406787hg19UCSC Ensembl
chr1:143735140..144118144hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382832424
hg19383005
hg18383005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998789, nsv1002736
Samples
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv327n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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