A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4730n100



Internal ID20156346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46729944..46808087hg38UCSC Ensembl
chr3:46771434..46849577hg19UCSC Ensembl
chr3:46746438..46824581hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3878144
hg1978144
hg1878144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011373, nsv1013195, nsv999530, nsv1000015, nsv1012073, nsv1014183, nsv1007909, nsv1008803, nsv1004724, nsv1009745, nsv999977, nsv1005585, nsv1002892, nsv1008289, nsv1002013, nsv1014854
Samples
Known GenesPRSS45, PRSS46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4730n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss107
Observed Complex0
Frequencyn/a


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