A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547147



Internal ID16334556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103629022..103676538hg38UCSC Ensembl
Innerchr1:104171644..104219160hg19UCSC Ensembl
Innerchr1:103973167..104020683hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3847517
hg1947517
hg1847517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720123
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547147
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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