A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057790



Internal ID19147009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42041983..42125586hg38UCSC Ensembl
Innerchr18:39621947..39705550hg19UCSC Ensembl
Innerchr18:37875945..37959548hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3883604
hg1983604
hg1883604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3342n100
Supporting Variantsnssv3725322, nssv3565346, nssv3565345
Samples
Known GenesPIK3C3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057790
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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