A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1836n100



Internal ID20153452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22676576..22803700hg38UCSC Ensembl
chr14:23145785..23272909hg19UCSC Ensembl
chr14:22215625..22342749hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38127125
hg19127125
hg18127125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051441, nsv1049731
Samples
Known GenesOXA1L, SLC7A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1836n100
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