A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3466739



Internal ID18715242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103616750hg38UCSC Ensembl
Innerchr1:104109226..104159372hg19UCSC Ensembl
Innerchr1:103910749..103960895hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3850147
hg1950147
hg1850147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002839
Supporting Variants
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3466739
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