A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547084



Internal ID15987807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103612312..103719439hg38UCSC Ensembl
Innerchr1:104154934..104262061hg19UCSC Ensembl
Innerchr1:103956457..104063584hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38107128
hg19107128
hg18107128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv420n54
Supporting Variantsnssv720028
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)nsv547084
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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