A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014747



Internal ID19103964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:189233253..189268128hg38UCSC Ensembl
Innerchr2:190097979..190132854hg19UCSC Ensembl
Innerchr2:189806224..189841099hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3834876
hg1934876
hg1834876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583895
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014747
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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