A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547120



Internal ID15987843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103751694hg38UCSC Ensembl
Innerchr1:104166324..104294316hg19UCSC Ensembl
Innerchr1:103967847..104095839hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38127993
hg19127993
hg18127993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n54
Supporting Variantsnssv720083
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)nsv547120
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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