A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058023



Internal ID19147242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56559549..56614559hg38UCSC Ensembl
Innerchr18:54226780..54281790hg19UCSC Ensembl
Innerchr18:52377778..52432788hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3855011
hg1955011
hg1855011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3359n100
Supporting Variantsnssv3565456
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)nsv1058023
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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