A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560995



Internal ID16001718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132304351..132305655hg38UCSC Ensembl
Innerchr12:132880937..132882241hg19UCSC Ensembl
Innerchr12:131391010..131392314hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381305
hg191305
hg181305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3024n54
Supporting Variantsnssv805589, nssv805588
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560995
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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