A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546964



Internal ID15987687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103726083hg38UCSC Ensembl
Innerchr1:104105635..104268705hg19UCSC Ensembl
Innerchr1:103907158..104070228hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38163071
hg19163071
hg18163071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n54
Supporting Variantsnssv719748
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)nsv546964
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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