A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057476



Internal ID19146695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56559549..56615362hg38UCSC Ensembl
Innerchr18:54226780..54282593hg19UCSC Ensembl
Innerchr18:52377778..52433591hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3855814
hg1955814
hg1855814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3359n100
Supporting Variantsnssv3565457
Samples
Known GenesTXNL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057476
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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