A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5016n100



Internal ID22791103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195552380..195720039hg38UCSC Ensembl
chr3:195279198..195446910hg19UCSC Ensembl
chr3:196760487..196932581hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38167660
hg19167713
hg18172095
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009953, nsv1008908
Samples
Known GenesAPOD, MIR570, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5016n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss16
Observed Complex0
Frequencyn/a


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