A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547108



Internal ID15987831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103622603..103647498hg38UCSC Ensembl
Innerchr1:104165225..104190120hg19UCSC Ensembl
Innerchr1:103966748..103991643hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3824896
hg1924896
hg1824896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv432n54
Supporting Variantsnssv720062
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547108
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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