A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547113



Internal ID15987836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103657364hg38UCSC Ensembl
Innerchr1:104166324..104199986hg19UCSC Ensembl
Innerchr1:103967847..104001509hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3833663
hg1933663
hg1833663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv430n54
Supporting Variantsnssv720073
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)nsv547113
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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