A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547192



Internal ID16334601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103679831..103733952hg38UCSC Ensembl
Innerchr1:104222453..104276574hg19UCSC Ensembl
Innerchr1:104023976..104078097hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854122
hg1954122
hg1854122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv442n54
Supporting Variantsnssv720175
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547192
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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