A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049807



Internal ID19139026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58675655..58833929hg38UCSC Ensembl
Innerchr12:59069437..59227711hg19UCSC Ensembl
Innerchr12:57355704..57513978hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38158275
hg19158275
hg18158275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523611
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)nsv1049807
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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