A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547022



Internal ID15987745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103601627..103629022hg38UCSC Ensembl
Innerchr1:104144249..104171644hg19UCSC Ensembl
Innerchr1:103945772..103973167hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3827396
hg1927396
hg1827396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719853
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547022
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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