A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547064



Internal ID15987787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611243..103742685hg38UCSC Ensembl
Innerchr1:104153865..104285307hg19UCSC Ensembl
Innerchr1:103955388..104086830hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38131443
hg19131443
hg18131443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv719992
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)nsv547064
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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