A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557959



Internal ID16345368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29791737..29806764hg38UCSC Ensembl
Innerchr12:29944670..29959697hg19UCSC Ensembl
Innerchr12:29835937..29850964hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3815028
hg1915028
hg1815028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790843
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557959
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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