A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3709501



Internal ID18661096
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 StatusS
Merged Variantsnsv1051530
Supporting Variants
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)nssv3709501
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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