A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057280



Internal ID19146499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:74366804..74453287hg38UCSC Ensembl
Innerchr18:72034039..72120522hg19UCSC Ensembl
Innerchr18:70185019..70271502hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3886484
hg1986484
hg1886484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3401n100
Supporting Variantsnssv3563006
Samples
Known GenesFAM69C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057280
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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