A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546975



Internal ID15987698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103567100..103755245hg38UCSC Ensembl
Innerchr1:104109722..104297867hg19UCSC Ensembl
Innerchr1:103911245..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38188146
hg19188146
hg18188146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv397n54
Supporting Variantsnssv719759
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546975
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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