A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547138



Internal ID15987861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103625156..103737122hg38UCSC Ensembl
Innerchr1:104167778..104279744hg19UCSC Ensembl
Innerchr1:103969301..104081267hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38111967
hg19111967
hg18111967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n54
Supporting Variantsnssv720106
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)nsv547138
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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