A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006505



Internal ID19095722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:191562434..191583637hg38UCSC Ensembl
Innerchr2:192427160..192448363hg19UCSC Ensembl
Innerchr2:192135405..192156608hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3821204
hg1921204
hg1821204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583896
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)nsv1006505
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