A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052308



Internal ID19141527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4963268..5015748hg38UCSC Ensembl
Innerchr12:5072434..5124914hg19UCSC Ensembl
Innerchr12:4942695..4995175hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3852481
hg1952481
hg1852481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519130
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)nsv1052308
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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