A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547117



Internal ID15987840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103678450hg38UCSC Ensembl
Innerchr1:104166324..104221072hg19UCSC Ensembl
Innerchr1:103967847..104022595hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854749
hg1954749
hg1854749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv416n54
Supporting Variantsnssv720079
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)nsv547117
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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