A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547219



Internal ID16334628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104647089..104731443hg38UCSC Ensembl
Innerchr1:105189711..105274065hg19UCSC Ensembl
Innerchr1:104991234..105075588hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3884355
hg1984355
hg1884355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720214
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547219
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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