A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547017



Internal ID15987740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103597390..103775792hg38UCSC Ensembl
Innerchr1:104140012..104318414hg19UCSC Ensembl
Innerchr1:103941535..104119937hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38178403
hg19178403
hg18178403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv397n54
Supporting Variantsnssv719847
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547017
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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