A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557889



Internal ID16345298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29005250..29011582hg38UCSC Ensembl
Innerchr12:29158183..29164515hg19UCSC Ensembl
Innerchr12:29049450..29055782hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386333
hg196333
hg186333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2438n54
Supporting Variantsnssv790145, nssv790146
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557889
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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