A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560991



Internal ID16001714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132304240..132305527hg38UCSC Ensembl
Innerchr12:132880826..132882113hg19UCSC Ensembl
Innerchr12:131390899..131392186hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381288
hg191288
hg181288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3025n54
Supporting Variantsnssv805579
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560991
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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