A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547167



Internal ID15987890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103645073..103737122hg38UCSC Ensembl
Innerchr1:104187695..104279744hg19UCSC Ensembl
Innerchr1:103989218..104081267hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3892050
hg1992050
hg1892050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv433n54
Supporting Variantsnssv720147, nssv720148
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547167
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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