A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556886



Internal ID15997609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:519070..553282hg38UCSC Ensembl
Innerchr12:628236..662448hg19UCSC Ensembl
Innerchr12:498497..532709hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3834213
hg1934213
hg1834213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv785869
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556886
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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