A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547036



Internal ID16334445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103610478..103755245hg38UCSC Ensembl
Innerchr1:104153100..104297867hg19UCSC Ensembl
Innerchr1:103954623..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38144768
hg19144768
hg18144768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv412n54
Supporting Variantsnssv719877, nssv719879, nssv719878, nssv719874, nssv719880, nssv719875, nssv719876
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)nsv547036
Frequency
Sample Size17421
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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