A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv250n100



Internal ID22786337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108286323..108552568hg38UCSC Ensembl
chr1:108828945..109095190hg19UCSC Ensembl
chr1:108630468..108896713hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38266246
hg19266246
hg18266246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998766, nsv1001874
Samples
Known GenesNBPF6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv250n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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