A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547124



Internal ID15987847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103766047hg38UCSC Ensembl
Innerchr1:104166324..104308669hg19UCSC Ensembl
Innerchr1:103967847..104110192hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38142346
hg19142346
hg18142346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n54
Supporting Variantsnssv720089
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)nsv547124
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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