A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051131



Internal ID19140350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47490198..47622773hg38UCSC Ensembl
Innerchr12:47883981..48016556hg19UCSC Ensembl
Innerchr12:46170248..46302823hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38132576
hg19132576
hg18132576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523513
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)nsv1051131
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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