A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5857n100



Internal ID22791944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180964290..181062103hg38UCSC Ensembl
chr5:180391290..180489103hg19UCSC Ensembl
chr5:180323896..180421709hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3897814
hg1997814
hg1897814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027665, nsv1018694, nsv1033958, nsv1020099, nsv1022495, nsv1024794
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5857n100
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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