A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547014



Internal ID15987737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103597390..103750309hg38UCSC Ensembl
Innerchr1:104140012..104292931hg19UCSC Ensembl
Innerchr1:103941535..104094454hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38152920
hg19152920
hg18152920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv719813, nssv719812
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)nsv547014
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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