A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556881



Internal ID15997604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:511705..512669hg38UCSC Ensembl
Innerchr12:620871..621835hg19UCSC Ensembl
Innerchr12:491132..492096hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38965
hg19965
hg18965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2247n54
Supporting Variantsnssv785865
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556881
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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