A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058549



Internal ID18801080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:21190080..21385561hg38UCSC Ensembl
Innerchr18:18770041..18965522hg19UCSC Ensembl
Innerchr18:17024039..17219520hg18UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg38195482
hg19195482
hg18195482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564129
Samples
Known GenesGREB1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058549
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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