A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547054



Internal ID15987777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611243..103623702hg38UCSC Ensembl
Innerchr1:104153865..104166324hg19UCSC Ensembl
Innerchr1:103955388..103967847hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3812460
hg1912460
hg1812460
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719980, nssv719979, nssv719981, nssv719982
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547054
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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