A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3550n100



Internal ID20155166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41916194..42001892hg38UCSC Ensembl
chr19:42420346..42506044hg19UCSC Ensembl
chr19:47112186..47197884hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3885699
hg1985699
hg1885699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055609, nsv1063979, nsv1064473
Samples
Known GenesATP1A3, GRIK5, RABAC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3550n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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