A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6523n54



Internal ID20139947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51767689..52118391hg38UCSC Ensembl
chr19:52270942..52621644hg19UCSC Ensembl
chr19:56962754..57313456hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38350703
hg19350703
hg18350703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579999, nsv580004, nsv580000, nsv579998, nsv580002, nsv580003
Samples1780854257_A, 1780862390_A
Known GenesFPR2, FPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6523n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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