A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557849



Internal ID16345258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779963..27780752hg38UCSC Ensembl
Innerchr12:27932896..27933685hg19UCSC Ensembl
Innerchr12:27824163..27824952hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38790
hg19790
hg18790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2427n54
Supporting Variantsnssv790064
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557849
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