A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3569031



Internal ID18867312
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 StatusS
Merged Variantsnsv1066129
Supporting Variants
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)nssv3569031
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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