A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053368



Internal ID19142587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37463949..37620204hg38UCSC Ensembl
Innerchr12:37857751..38014006hg19UCSC Ensembl
Innerchr12:36144018..36300273hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38156256
hg19156256
hg18156256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1465n100
Supporting Variantsnssv3522861, nssv3522860
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)nsv1053368
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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