A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557840



Internal ID16345249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27780611hg38UCSC Ensembl
Innerchr12:27932885..27933544hg19UCSC Ensembl
Innerchr12:27824152..27824811hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38660
hg19660
hg18660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2426n54
Supporting Variantsnssv790039, nssv790038
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557840
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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