A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548698



Internal ID16336107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194803327..194992042hg38UCSC Ensembl
Innerchr1:194772457..194961172hg19UCSC Ensembl
Innerchr1:193039080..193227795hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38188716
hg19188716
hg18188716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733899
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548698
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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