A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556882



Internal ID15997605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:511705..513202hg38UCSC Ensembl
Innerchr12:620871..622368hg19UCSC Ensembl
Innerchr12:491132..492629hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381498
hg191498
hg181498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2248n54
Supporting Variantsnssv785866
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556882
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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