A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796283



Internal ID16090239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54025136..54034227hg38UCSC Ensembl
Innerchr12:54418920..54428011hg19UCSC Ensembl
Innerchr12:52705187..52714278hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg389092
hg199092
hg189092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558998
Supporting Variants
Samples
Known GenesHOXC4, HOXC5, HOXC6, MIR615
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv796283
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