A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547216



Internal ID16334625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104368704..104438342hg38UCSC Ensembl
Innerchr1:104911326..104980964hg19UCSC Ensembl
Innerchr1:104712849..104782487hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3869639
hg1969639
hg1869639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n54
Supporting Variantsnssv720211
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547216
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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