A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546969



Internal ID15987692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103564446..103679831hg38UCSC Ensembl
Innerchr1:104107068..104222453hg19UCSC Ensembl
Innerchr1:103908591..104023976hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38115386
hg19115386
hg18115386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv395n54
Supporting Variantsnssv719753
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)nsv546969
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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