A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557708



Internal ID15998431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20857114..20861335hg38UCSC Ensembl
Innerchr12:21010048..21014269hg19UCSC Ensembl
Innerchr12:20901315..20905536hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg384222
hg194222
hg184222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2400n54
Supporting Variantsnssv789517, nssv789518
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557708
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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