A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060332



Internal ID19149551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:74355436..74442193hg38UCSC Ensembl
Innerchr18:72022671..72109428hg19UCSC Ensembl
Innerchr18:70173651..70260408hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3886758
hg1986758
hg1886758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3401n100
Supporting Variantsnssv3723231
Samples
Known GenesC18orf63, FAM69C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060332
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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