A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048489



Internal ID19137708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37640544..38058940hg38UCSC Ensembl
Innerchr12:38034346..38452742hg19UCSC Ensembl
Innerchr12:36320613..36739009hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38418397
hg19418397
hg18418397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1470n100
Supporting Variantsnssv3522959
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)nsv1048489
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