A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548076



Internal ID15988799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161723213..161733002hg38UCSC Ensembl
Innerchr1:161693003..161702792hg19UCSC Ensembl
Innerchr1:159959627..159969416hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg389790
hg199790
hg189790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173216
Samples1780854158_A
Known GenesFCRLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548076
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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