A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046458



Internal ID18788989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18340674..18394931hg38UCSC Ensembl
Innerchr10:18629603..18683860hg19UCSC Ensembl
Innerchr10:18669609..18723866hg18UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg3854258
hg1954258
hg1854258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3512982
Samples
Known GenesCACNB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046458
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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