A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066142



Internal ID18808673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13801920..14221947hg38UCSC Ensembl
Innerchr18:13801919..14221946hg19UCSC Ensembl
Innerchr18:13791919..14211946hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38420028
hg19420028
hg18420028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564109
Samples
Known GenesANKRD20A5P, MC2R, MC5R, ZNF519
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066142
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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