A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546985



Internal ID15987708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103586151..103640666hg38UCSC Ensembl
Innerchr1:104128773..104183288hg19UCSC Ensembl
Innerchr1:103930296..103984811hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854516
hg1954516
hg1854516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv400n54
Supporting Variantsnssv719769
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546985
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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