A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066568



Internal ID18809099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48536514..48625548hg38UCSC Ensembl
Innerchr19:49039771..49128805hg19UCSC Ensembl
Innerchr19:53731583..53820617hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3889035
hg1989035
hg1889035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3617n100
Supporting Variantsnssv3574967
Samples
Known GenesFAM83E, RPL18, SPACA4, SPHK2, SULT2B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066568
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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