A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047635



Internal ID19136854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84786270..84821043hg38UCSC Ensembl
Innerchr12:85180049..85214822hg19UCSC Ensembl
Innerchr12:83704180..83738953hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3834774
hg1934774
hg1834774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524756
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)nsv1047635
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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