A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067278



Internal ID19156497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47037791..47102912hg38UCSC Ensembl
Innerchr18:44564162..44629283hg19UCSC Ensembl
Innerchr18:42818160..42883281hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3865122
hg1965122
hg1865122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565394
Samples
Known GenesKATNAL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067278
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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