A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009947



Internal ID18752478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195548564..195737983hg38UCSC Ensembl
Innerchr3:195275383..195464854hg19UCSC Ensembl
Innerchr3:196756672..196950525hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38189420
hg19189472
hg18193854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5014n100
Supporting Variantsnssv3611384
Samples
Known GenesAPOD, MIR570, MUC20, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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