A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052311



Internal ID19141530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37572505..37999846hg38UCSC Ensembl
Innerchr12:37966307..38393648hg19UCSC Ensembl
Innerchr12:36252574..36679915hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38427342
hg19427342
hg18427342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1470n100
Supporting Variantsnssv3522873
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)nsv1052311
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer