A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060326



Internal ID18802857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48956295..49015318hg38UCSC Ensembl
Innerchr19:49459552..49518575hg19UCSC Ensembl
Innerchr19:54151364..54210387hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3859024
hg1959024
hg1859024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3618n100
Supporting Variantsnssv3574970
Samples
Known GenesBAX, FTL, GYS1, MIR6798, RUVBL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060326
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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