A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3970n71



Internal ID6321590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49485758..49718548hg19UCSC Ensembl
chr19:54177570..54410360hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv912253, nsv912250, nsv912249
SamplesMS17208, MS16153, IS39233
Known GenesC19orf73, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, GYS1, HRC, KCNA7, LHB, LIN7B, NTF4, PPFIA3, RUVBL2, SNAR-G1, SNAR-G2, SNRNP70, TRPM4
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv3970n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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