A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547213



Internal ID16334622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104347937..104411743hg38UCSC Ensembl
Innerchr1:104890559..104954365hg19UCSC Ensembl
Innerchr1:104692082..104755888hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3863807
hg1963807
hg1863807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv446n54
Supporting Variantsnssv720208
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547213
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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