A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547185



Internal ID15987908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103669454..103755245hg38UCSC Ensembl
Innerchr1:104212076..104297867hg19UCSC Ensembl
Innerchr1:104013599..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3885792
hg1985792
hg1885792
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720167, nssv720168, nssv720166
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)nsv547185
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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