A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559034



Internal ID15999757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57466149..57618450hg38UCSC Ensembl
Innerchr12:57859932..58012233hg19UCSC Ensembl
Innerchr12:56146199..56298500hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38152302
hg19152302
hg18152302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796323
Samples
Known GenesARHGAP9, ARHGEF25, DCTN2, DDIT3, DTX3, GLI1, KIF5A, MARS, MBD6, MIR6758, PIP4K2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559034
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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