A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049287



Internal ID19138506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9477948..9587738hg38UCSC Ensembl
Innerchr12:9630544..9740334hg19UCSC Ensembl
Innerchr12:9521811..9631601hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38109791
hg19109791
hg18109791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1373n100
Supporting Variantsnssv3515816
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)nsv1049287
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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