A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548592



Internal ID16336001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191654563..191967426hg38UCSC Ensembl
Innerchr1:191623693..191936556hg19UCSC Ensembl
Innerchr1:189890316..190203179hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38312864
hg19312864
hg18312864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv703n54
Supporting Variantsnssv732607
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548592
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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