A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058554



Internal ID19147773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50064280..50210733hg38UCSC Ensembl
Innerchr18:47590650..47737103hg19UCSC Ensembl
Innerchr18:45844648..45991101hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38146454
hg19146454
hg18146454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565441
Samples
Known GenesMIR4320, MYO5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058554
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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