A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547119



Internal ID15987842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103721864hg38UCSC Ensembl
Innerchr1:104166324..104264486hg19UCSC Ensembl
Innerchr1:103967847..104066009hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3898163
hg1998163
hg1898163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv420n54
Supporting Variantsnssv720082
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)nsv547119
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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