A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557834



Internal ID16345243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779899..27780804hg38UCSC Ensembl
Innerchr12:27932832..27933737hg19UCSC Ensembl
Innerchr12:27824099..27825004hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38906
hg19906
hg18906
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2425n54
Supporting Variantsnssv789986, nssv789985
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557834
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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