A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv319n100



Internal ID22786406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148918473..149000235hg38UCSC Ensembl
chr1:144884237..144966026hg19UCSC Ensembl
chr1:143595594..143677383hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3881763
hg1981790
hg1881790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002034, nsv1000251, nsv1001346
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv319n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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