A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547123



Internal ID15987846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103760817hg38UCSC Ensembl
Innerchr1:104166324..104303439hg19UCSC Ensembl
Innerchr1:103967847..104104962hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38137116
hg19137116
hg18137116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv720088
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)nsv547123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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