A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546968



Internal ID15987691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103564446..103591836hg38UCSC Ensembl
Innerchr1:104107068..104134458hg19UCSC Ensembl
Innerchr1:103908591..103935981hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3827391
hg1927391
hg1827391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv396n54
Supporting Variantsnssv719752
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546968
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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