A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546959



Internal ID15987682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103676538hg38UCSC Ensembl
Innerchr1:104105635..104219160hg19UCSC Ensembl
Innerchr1:103907158..104020683hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38113526
hg19113526
hg18113526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv395n54
Supporting Variantsnssv719740
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)nsv546959
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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