A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014504



Internal ID19103722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148914287..148995007hg38UCSC Ensembl
Innerchr1:144889465..144970212hg19UCSC Ensembl
Innerchr1:143600822..143681569hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3880721
hg1980748
hg1880748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv320n100
Supporting Variantsnssv3702093
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014504
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