A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3064n100



Internal ID20154680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88683753..88846491hg38UCSC Ensembl
chr16:88750161..88912899hg19UCSC Ensembl
chr16:87277662..87440400hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38162739
hg19162739
hg18162739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059906, nsv1058150, nsv1067173
Samples
Known GenesAPRT, CDT1, CTU2, GALNS, LOC100289580, MIR4722, PIEZO1, RNF166, SNAI3, SNAI3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3064n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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