A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547116



Internal ID15987839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103677837hg38UCSC Ensembl
Innerchr1:104166324..104220459hg19UCSC Ensembl
Innerchr1:103967847..104021982hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854136
hg1954136
hg1854136
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720077, nssv720078, nssv720076
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)nsv547116
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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