A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4319n100



Internal ID19014687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45384898..45428463hg38UCSC Ensembl
chr20:44013538..44057103hg19UCSC Ensembl
chr20:43446952..43490517hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3843566
hg1943566
hg1843566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058497, nsv1057178
Samples
Known GenesDBNDD2, MIR6812, PIGT, SYS1-DBNDD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4319n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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