A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547030



Internal ID15987753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103747594hg38UCSC Ensembl
Innerchr1:104146557..104290216hg19UCSC Ensembl
Innerchr1:103948080..104091739hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38143660
hg19143660
hg18143660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv719867, nssv719868
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)nsv547030
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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