A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576592



Internal ID16364001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:28998016..29065655hg38UCSC Ensembl
Innerchr18:26577980..26645619hg19UCSC Ensembl
Innerchr18:24831978..24899617hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3867640
hg1967640
hg1867640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149708
SamplesHGDP01201
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576592
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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