A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547060



Internal ID15987783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611243..103684099hg38UCSC Ensembl
Innerchr1:104153865..104226721hg19UCSC Ensembl
Innerchr1:103955388..104028244hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3872857
hg1972857
hg1872857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv416n54
Supporting Variantsnssv719988
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)nsv547060
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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