A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047257



Internal ID19136476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59051185..59126549hg38UCSC Ensembl
Innerchr12:59444966..59520330hg19UCSC Ensembl
Innerchr12:57731233..57806597hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3875365
hg1975365
hg1875365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1508n100
Supporting Variantsnssv3523625
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)nsv1047257
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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