A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547218



Internal ID16334627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104568821..104592040hg38UCSC Ensembl
Innerchr1:105111443..105134662hg19UCSC Ensembl
Innerchr1:104912966..104936185hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3823220
hg1923220
hg1823220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720213
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547218
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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