A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055794



Internal ID18798325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18500735..18566123hg38UCSC Ensembl
Innerchr19:18611545..18676933hg19UCSC Ensembl
Innerchr19:18472545..18537933hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3865389
hg1965389
hg1865389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3569784
Samples
Known GenesELL, FKBP8, KXD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055794
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