A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557880



Internal ID16345289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28375375..28429860hg38UCSC Ensembl
Innerchr12:28528308..28582793hg19UCSC Ensembl
Innerchr12:28419575..28474060hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3854486
hg1954486
hg1854486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2435n54
Supporting Variantsnssv1175457
Samples1780862576_A
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557880
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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