A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052198



Internal ID18794729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107639192..107813645hg38UCSC Ensembl
Innerchr11:107509918..107684371hg19UCSC Ensembl
Innerchr11:107015128..107189581hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38174454
hg19174454
hg18174454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519031
Samples
Known GenesELMOD1, SLC35F2, SLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052198
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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