A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547112



Internal ID15987835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103622603..103755245hg38UCSC Ensembl
Innerchr1:104165225..104297867hg19UCSC Ensembl
Innerchr1:103966748..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38132643
hg19132643
hg18132643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv720068, nssv720072, nssv720067, nssv720070, nssv720071, nssv720066, nssv720069
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)nsv547112
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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