A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559033



Internal ID15999756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57454856..57552694hg38UCSC Ensembl
Innerchr12:57848639..57946477hg19UCSC Ensembl
Innerchr12:56134906..56232744hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3897839
hg1997839
hg1897839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2651n54
Supporting Variantsnssv796322
Samples
Known GenesARHGAP9, DCTN2, DDIT3, GLI1, INHBE, KIF5A, MARS, MBD6, MIR6758
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559033
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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