A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557883



Internal ID16345292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28428169..28490280hg38UCSC Ensembl
Innerchr12:28581102..28643213hg19UCSC Ensembl
Innerchr12:28472369..28534480hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3862112
hg1962112
hg1862112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2436n54
Supporting Variantsnssv790140
Samples
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557883
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer