A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547076



Internal ID15987799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103612150..103672137hg38UCSC Ensembl
Innerchr1:104154772..104214759hg19UCSC Ensembl
Innerchr1:103956295..104016282hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3859988
hg1959988
hg1859988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv424n54
Supporting Variantsnssv720014
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547076
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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