A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560980



Internal ID16001703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132303726..132304881hg38UCSC Ensembl
Innerchr12:132880312..132881467hg19UCSC Ensembl
Innerchr12:131390385..131391540hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381156
hg191156
hg181156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805526, nssv805527
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560980
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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