A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4852n100



Internal ID20156468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126607261..126669480hg38UCSC Ensembl
chr3:126326104..126388323hg19UCSC Ensembl
chr3:127808794..127871013hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3862220
hg1962220
hg1862220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009363, nsv1013741, nsv1010442
Samples
Known GenesNUP210P1, TXNRD3, TXNRD3NB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4852n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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