A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054732



Internal ID19143951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31849350..31928477hg38UCSC Ensembl
Innerchr12:32002284..32081411hg19UCSC Ensembl
Innerchr12:31893551..31972678hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3879128
hg1979128
hg1879128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1425n100
Supporting Variantsnssv3521232
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)nsv1054732
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