A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546963



Internal ID15987686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103721864hg38UCSC Ensembl
Innerchr1:104105635..104264486hg19UCSC Ensembl
Innerchr1:103907158..104066009hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38158852
hg19158852
hg18158852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n54
Supporting Variantsnssv719747
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)nsv546963
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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