A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547221



Internal ID16334630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104712299..104743597hg38UCSC Ensembl
Innerchr1:105254921..105286219hg19UCSC Ensembl
Innerchr1:105056444..105087742hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3831299
hg1931299
hg1831299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv448n54
Supporting Variantsnssv720215
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547221
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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