A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055175



Internal ID18797706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48972679..49093840hg38UCSC Ensembl
Innerchr18:46499049..46620210hg19UCSC Ensembl
Innerchr18:44753047..44874208hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38121162
hg19121162
hg18121162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565439
Samples
Known GenesDYM, MIR4744
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055175
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