A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049160



Internal ID18791691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54254119..54362754hg38UCSC Ensembl
Innerchr12:54647903..54756538hg19UCSC Ensembl
Innerchr12:52934170..53042805hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38108636
hg19108636
hg18108636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523595
Samples
Known GenesCBX5, COPZ1, GPR84, HNRNPA1, HNRNPA1P10, MIR148B, NFE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049160
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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