A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066129



Internal ID19155348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:258717..369148hg38UCSC Ensembl
Innerchr18:258717..369148hg19UCSC Ensembl
Innerchr18:248717..359148hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38110432
hg19110432
hg18110432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3569031
Samples
Known GenesCOLEC12, THOC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066129
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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