A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051696



Internal ID19140915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59228622..59347325hg38UCSC Ensembl
Innerchr12:59622403..59741106hg19UCSC Ensembl
Innerchr12:57908670..58027373hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38118704
hg19118704
hg18118704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523630
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)nsv1051696
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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