A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052827



Internal ID19142046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58548643..58563278hg38UCSC Ensembl
Innerchr12:58942426..58957061hg19UCSC Ensembl
Innerchr12:57228693..57243328hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3814636
hg1914636
hg1814636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523610
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)nsv1052827
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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