A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556888



Internal ID15997611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:528197..564117hg38UCSC Ensembl
Innerchr12:637363..673283hg19UCSC Ensembl
Innerchr12:507624..543544hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835921
hg1935921
hg1835921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2250n54
Supporting Variantsnssv785871
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556888
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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