A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557084



Internal ID15997807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3136424..3146196hg38UCSC Ensembl
Innerchr12:3245590..3255362hg19UCSC Ensembl
Innerchr12:3115851..3125623hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg389773
hg199773
hg189773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175411
SamplesNINDS_111
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557084
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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