A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041804



Internal ID19131023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83656993..84072824hg38UCSC Ensembl
Innerchr12:84050772..84466603hg19UCSC Ensembl
Innerchr12:82574903..82990734hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38415832
hg19415832
hg18415832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1536n100
Supporting Variantsnssv3712575
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)nsv1041804
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