A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547042



Internal ID15987765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611144..103624903hg38UCSC Ensembl
Innerchr1:104153766..104167525hg19UCSC Ensembl
Innerchr1:103955289..103969048hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3813760
hg1913760
hg1813760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719896, nssv719895
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547042
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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