A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560998



Internal ID16001721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132305119..132363214hg38UCSC Ensembl
Innerchr12:132881705..132939800hg19UCSC Ensembl
Innerchr12:131391778..131449873hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3858096
hg1958096
hg1858096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805593
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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