A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547012



Internal ID15987735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103597390..103719276hg38UCSC Ensembl
Innerchr1:104140012..104261898hg19UCSC Ensembl
Innerchr1:103941535..104063421hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38121887
hg19121887
hg18121887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv405n54
Supporting Variantsnssv719810
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)nsv547012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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