A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557706



Internal ID15998429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20847652..20862826hg38UCSC Ensembl
Innerchr12:21000586..21015760hg19UCSC Ensembl
Innerchr12:20891853..20907027hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3815175
hg1915175
hg1815175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2399n54
Supporting Variantsnssv789515
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557706
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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