A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051530



Internal ID18794061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8442286..9951690hg38UCSC Ensembl
Innerchr12:8594882..10104289hg19UCSC Ensembl
Innerchr12:8486149..9995556hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381509405
hg191509408
hg181509408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3709501
Samples
Known GenesA2M, A2M-AS1, A2ML1, A2MP1, AICDA, CD69, CLEC12A, CLEC2A, CLEC2B, CLEC2D, CLEC4D, CLEC4E, CLEC6A, CLECL1, DDX12P, KLRB1, KLRF1, KLRF2, KLRG1, LINC00612, LINC00987, LOC102467076, LOC374443, LOC642846, M6PR, MFAP5, MIR1244-1, MIR1244-2, MIR1244-3, PHC1, PZP, RIMKLB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051530
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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