A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547169



Internal ID16334578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103645686..103719086hg38UCSC Ensembl
Innerchr1:104188308..104261708hg19UCSC Ensembl
Innerchr1:103989831..104063231hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3873401
hg1973401
hg1873401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv437n54
Supporting Variantsnssv720150
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)nsv547169
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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